OxalEurope Publications

  1. Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber K, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B. Liver cell transplantation in severe infantile oxalosis – a possible bridging procedure? Nephrol Dial Transplant, 2012, epub
  2. Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet . 2012 Jul 11. doi: 10.1038/ejhg.2012.139. [Epub ahead of print]
  3. Cellini B, Montioli R, Borri Voltattorni C. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants. Biochim Biophys Acta 2011;1814:1577-84
  4. Cellini B, Oppici E, Paiardini A, Montioli R. Molecular insights into Primary Hyperoxaluria Pathogenesis. Frontiers in Biosciences, 2012;17:621-634
  5. Cochat P, Fargue S, Bacchetta J, Bertholet-Thomas A, Sabot JF, Harambat J. Hyperoxalurie primitive. Néphrol Thérap 2011 ; 7: 249-59
  6. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope.Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant . 2012 May;27(5):1729-36.
  7. Habbig S, Beck BB, Hoppe B. Nephrocalcinosis and urolithiasis in children. Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28.
  8. Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P. Primary hyperoxaluria. Int J Nephrol 2011 [Epub]
  9. Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P, on behalf of the European Society for Padiatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry. Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol [Epub]
  10. Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB. Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis. Am J Kidney Dis. 2011 Sep;58(3):453-5. Epub 2011 Jun 25.
  11. Hoppe B, Groothoff JW, Hulton SA, Cochat P, Niaudet P, Kemper MJ, Deschênes G, Unwin R, Milliner D. Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. Nephrol Dial Transplant. 2011 Nov;26(11):3609-15. Epub 2011 Apr 2.
  12. Hoppe B. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III (editorial comment), Nephrol Dial Transplant, 2012, in press
  13. Hoppe B. An update an primary hyperoxaluria, Nat Rev Nephrol, 2012, in press
  14. Hoppe B. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. Nephrol Dial Transplant . 2012 Aug;27(8):3024-6. No abstract available.
  15. Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol . 2012 Jun 12;8(8):467-75. doi: 10.1038/nrneph.2012.113.
  16. Hueppelshaeuser R, von Unruh GE, Habbig S, Beck BB, Buderus S, Hesse A, Hoppe B. Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease. Pediatr Nephrol . 2012 Jul;27(7):1103-9. Epub 2012 Feb 25.
  17. Knight J, Holmes RP, Cramer SD, Takayama T, Salido EC. Hydroxyproline Metabolism in Mouse Models of Primary Hyperoxaluria. Am J Physiol Renal Physiol. 2011 Dec 21. [Epub ahead of print]
  18. Montioli R, Fargue S, Lewin J, Zamparelli C, Danpure CJ, Borri Voltattorni C, Cellini B. The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase. Int J Biochem Cell Biol. 2012; in press
  19. Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I. *Mol Gen Metab, 2012;105:132-140
  20. Pey AL, Salido E, Sanchez-Ruiz JM. Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria. Amino Acids. 2011 Nov;41(5):1233-45. Epub 2010 Nov 20.
  21. Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B.Primary hyperoxaluria presenting with early renal allograft dysfunction. Nephrology (Carlton) . 2012 May;17(4):431. doi: 10.1111/j.1440-1797.2011.01534.x. No abstract available.
  22. Robijn S, Hoppe B, Vervaet BA, D'Haese PC, Verhulst A. Hyperoxaluria: a gut-kidney axis? Kidney Int. 2011 Dec;80(11):1146-58. doi: 10.1038/ki.2011.287. Epub 2011 Aug 24.
  23. Rumsby, G: Primary Hyperoxaluria Type 2 (May 2011) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org
  24. Salido E, Rodriguez-Pena M, Santana A, Beattie SG, Petry H, Torres A. Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer. Mol Ther. 2011 May;19(5):870-5. Epub 2010 Nov 30.
  25. Williams E L, Bockenhauer D, Van't Hoff W G, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant 2012 in press
  26. Medina-Carmona E, Fuchs JE, Gavira JA, Mesa-Torres N, Neira JL, Salido E, Palomino-Morales R, Burgos M, Timson DJ, Pey AL. Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution. Hum Mol Genet. 2017 Sep 15;26(18):3531-3544. doi: 10.1093/hmg/ ddx238. PubMed PMID: 28911204.
  27. Dindo M, Conter C, Cellini B. Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I. FEBS J. 2017 Sep 14. doi: 10.1111/febs.14269. [Epub ahead of print] PubMed PMID: 28906061.
  28. Esperto F, Marangella M, Trinchieri A, Petrarulo M, Miano R. A multiregional Italian cohort of 24-hour urine metabolic evaluation in renal stone formers. Minerva Urol Nefrol. 2017 Sep 7. doi: 10.23736/ S0393-2249.17.02961-7. [Epub ahead of print] PubMed PMID: 28882031.
  29. Clifford-Mobley O, Rumsby G, Kanodia S, Didi M, Holt R, Senniappan S. Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. Pediatr Nephrol. 2017 Jul 27. doi: 10.1007/s00467-017-3741-1. [Epub ahead of print] PubMed PMID: 28752386.
  30. Milliner D, Hoppe B, Groothoff J. A randomised Phase II/ III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. Urolithiasis. 2017 Jul 17. doi: 10.1007/s00240-017-0998-6. [Epub ahead of print] PubMed PMID: 28718073.
  31. Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B. Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. Pediatr Nephrol. 2017 Jul 15. doi: 10.1007/s00467-017-3731-3. [Epub ahead of print] PubMed PMID: 28711958.
  32. Martin-Higueras C, Torres A, Salido E. Molecular therapy of primary hyperoxaluria. J Inherit Metab Dis. 2017 Jul;40(4):481-489. doi: 10.1007/s10545-017-0045-3. Epub 2017 Apr 19. PubMed PMID: 28425073.
  33. Talati JJ, Hulton SA, Garrelfs SF, Aziz W, Rao S, Memon A, Nazir Z, Biyabani R, Qazi S, Azam I, Khan AH, Ahmed J, Jafri L, Zeeshan M. Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. Urolithiasis. 2017 Jun 28. doi: 10.1007/ s00240-017-0996-8. [Epub ahead of print] Review. PubMed PMID: 28660284.
  34. Richard E, Blouin JM, Harambat J, Llanas B, Bouchet S, Acquaviva C, de la Faille R. Late diagnosis of primary hyperoxaluria type III. Ann Clin Biochem. 2017 May;54(3):406-411. doi: 10.1177/0004563216677101. Epub 2017 Jan 10. PubMed PMID: 27742850.
  35. Hoppe B, Niaudet P, Salomon R, Harambat J, Hulton SA, Van't Hoff W, Moochhala SH, Deschênes G, Lindner E, Sjögren A, Cochat P. A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. Pediatr Nephrol. 2017 May;32(5): 781-790. doi: 10.1007/s00467-016-3553-8. Epub 2016 Dec 6. PubMed PMID: 27924398.
  36. Issler N, Dufek S, Kleta R, Bockenhauer D, Smeulders N, Van't Hoff W. Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK. BMC Nephrol. 2017 Apr 18;18(1):136. doi: 10.1186/s12882-017-0505-x. PubMed PMID: 28420322; PubMed Central PMCID: PMC5395926.
  37. Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G. Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. J Nephrol. 2017 Apr;30(2):219-225. doi: 10.1007/s40620-016-0287-4. Epub 2016 Mar 5. PubMed PMID: 26946417.
  38. Roncador A, Oppici E, Talelli M, Pariente AN, Donini M, Dusi S, Voltattorni CB, Vicent MJ, Cellini B. Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I. Nanomedicine. 2017 Apr;13(3):897-907. doi: 10.1016/j.nano.2016.12.011. Epub 2016 Dec 18. PubMed PMID: 27993722.
  39. Mulay SR, Eberhard JN, Desai J, Marschner JA, Kumar SV, Weidenbusch M, Grigorescu M, Lech M, Eltrich N, Müller L, Hans W, Hrabe de Angelis M, Vielhauer V, Hoppe B, Asplin J, Burzlaff N, Herrmann M, Evan A, Anders HJ. Hyperoxaluria Requires TNF Receptors to Initiate Crystal Adhesion and Kidney Stone Disease. J Am Soc Nephrol. 2017 Mar;28(3):761-768. doi: 10.1681/ASN. 2016040486. Epub 2016 Sep 9. PubMed PMID: 27612997; PubMed Central PMCID: PMC5328164.
  40. Dindo M, Montioli R, Busato M, Giorgetti A, Cellini B, Borri Voltattorni C. Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T. Biochimie. 2016 Dec;131:137-148. doi: 10.1016/j.biochi.2016.10.001. Epub 2016 Oct 5. PubMed PMID: 27720751.
  41. Rumsby G. Genetic defects underlying renal stone disease. Int J Surg. 2016 Dec;36(Pt D):590-595. doi: 10.1016/j.ijsu.2016.11.015. Epub 2016 Nov 10. Review. PubMed PMID: 27838384.
  42. Hulton SA. The primary hyperoxalurias: A practical approach to diagnosis and treatment. Int J Surg. 2016 Dec;36(Pt D):649-654. doi: 10.1016/j.ijsu.2016.10.039. Epub 2016 Nov 1. Review. PubMed PMID: 27815184.
  43. Wang M, Xu M, Long Y, Fargue S, Southall N, Hu X, McKew JC, Danpure CJ, Zheng W. High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1. Sci Rep. 2016 Sep 27;6:34060. doi: 10.1038/srep34060. PubMed PMID: 27670739; PubMed Central PMCID: PMC5037430.
  44. Mesa-Torres N, Calvo AC, Oppici E, Titelbaum N, Montioli R, Miranda-Vizuete A, Cellini B, Salido E, Pey AL. Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism. Biochim Biophys Acta. 2016 Sep;1864(9):1195-1205. doi: 10.1016/j.bbapap.2016.05.004. Epub 2016 May 11. PubMed PMID: 27179589.
  45. Duclaux-Loras R, Bacchetta J, Berthiller J, Rivet C, Demède D, Javouhey E, Dubois R, Dijoud F, Lachaux A, Badet L, Boillot O, Cochat P. Pediatric combined liver-kidney transplantation: a single-center experience of 18 cases. Pediatr Nephrol. 2016 Sep;31(9):1517-29. doi: 10.1007/ s00467-016-3324-6. Epub 2016 Apr 8. PubMed PMID: 27060059.
  46. Clifford-Mobley O, Sjögren A, Lindner E, Rumsby G. Urine oxalate biological variation in patients with primary hyperoxaluria. Urolithiasis. 2016 Aug;44(4):333-7. doi: 10.1007/s00240-016-0860-2. Epub 2016 Feb 8. PubMed PMID: 26857252.
  47. Clifford-Mobley O, Hewitt L, Rumsby G. Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria. Ann Clin Biochem. 2016 Jul;53(Pt 4):485-94. doi: 10.1177/0004563215606158. Epub 2015 Sep 4. PubMed PMID: 26342005.
  48. Pagliarini R, Castello R, Napolitano F, Borzone R, Annunziata P, Mandrile G, De Marchi M, Brunetti-Pierri N, di Bernardo D. In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis. Cell Rep. 2016 Jun 7;15(10):2292-300. doi: 10.1016/j.celrep.2016.05.014. Epub 2016 May 26. PubMed PMID: 27239044; PubMed Central PMCID: PMC4906368.
  49. Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ. Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay. Biochim Biophys Acta. 2016 Jun;1862(6):1055-62. doi: 10.1016/j.bbadis.2016.02.004. Epub 2016 Feb 6. PubMed PMID: 26854734; PubMed Central PMCID: PMC5110007.
  50. Dutta C, Avitahl-Curtis N, Pursell N, Larsson Cohen M, Holmes B, Diwanji R, Zhou W, Apponi L, Koser M, Ying B, Chen D, Shui X, Saxena U, Cyr WA, Shah A, Nazef N, Wang W, Abrams M, Dudek H, Salido E, Brown BD, Lai C. Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1. Mol Ther. 2016 Apr;24(4):770-8. doi: 10.1038/mt.2016.4. Epub 2016 Jan 13. PubMed PMID: 26758691; PubMed Central PMCID: PMC4886950.
  51. Martin-Higueras C, Luis-Lima S, Salido E. Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. Mol Ther. 2016 Apr;24(4):719-25. doi: 10.1038/mt.2015.224. Epub 2015 Dec 22. PubMed PMID: 26689264; PubMed Central PMCID: PMC4886931.
  52. Li X, Knight J, Fargue S, Buchalski B, Guan Z, Inscho EW, Liebow A, Fitzgerald K, Querbes W, Todd Lowther W, Holmes RP. Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase. Biochim Biophys Acta. 2016 Feb;1862(2):233-9. doi: 10.1016/j.bbadis.2015.12.001. Epub 2015 Dec 2. PubMed PMID: 26655602; PubMed Central PMCID: PMC4706777.
  53. Brooks ER, Hoppe B, Milliner DS, Salido E, Rim J, Krevitt LM, Olson JB, Price HE, Vural G, Langman CB. Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria. Am J Nephrol. 2016;43(4):293-303. doi: 10.1159/000445448. Epub 2016 May 3. PubMed PMID: 27161247; PubMed Central PMCID: PMC4904731.
  54. Oppici E, Montioli R, Dindo M, Cellini B. Natural and Unnatural Compounds Rescue Folding Defects of Human Alanine: Glyoxylate Aminotransferase Leading to Primary Hyperoxaluria Type I. Curr Drug Targets. 2016;17(13): 1482-91. Review. PubMed PMID: 26931357.
  55. Marangella M, Petrarulo M, Bermond F, Marcuccio C, Vitale C. [The Hyperoxalurias]. G Ital Nefrol. 2016 Malattie Metaboliche e Rene;33(S68). pii: gin/33.S68.12. Italian. PubMed PMID: 27960020.
  56. Bacchetta J, Boivin G, Cochat P. Bone impairment in primary hyperoxaluria: a review. Pediatr Nephrol. 2016 Jan;31(1):1-6. doi: 10.1007/ s00467-015-3048-z. Epub 2015 Jan 29. Review. PubMed PMID: 25631241.
  57. Zapata-Linares N, Rodriguez S, Salido E, Abizanda G, Iglesias E, Prosper F, Gonzalez-Aseguinolaza G, Rodriguez-Madoz JR. Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation. Stem Cell Res. 2016 Jan;16(1):116-9. doi: 10.1016/ j.scr.2015.12.014. Epub 2015 Dec 28. PubMed PMID: 27345794.
  58. Bacchetta J, Farlay D, Abelin-Genevois K, Lebourg L, Cochat P, Boivin G. Bone impairment in oxalosis: An ultrastructural bone analysis. Bone. 2015 Dec;81:161-7. doi: 10.1016/j.bone.2015.07.010. Epub 2015 Jul 9. PubMed PMID: 26164477.
  59. Fu Y, Rope R, Fargue S, Cohen HT, Holmes RP, Cohen DM. A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II. Clin Genet. 2015 Nov;88(5): 494-8. doi: 10.1111/cge.12541. Epub 2014 Dec 26. PubMed PMID: 25410531; PubMed Central PMCID: PMC4437915.
  60. Oppici E, Montioli R, Dindo M, Maccari L, Porcari V, Lorenzetto A, Chellini S, Voltattorni CB, Cellini B. The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I. ACS Chem Biol. 2015 Oct 16;10(10):2227-36. doi: 10.1021/acschembio.5b00480. Epub 2015 Jul 27. PubMed PMID: 26161999.
  61. Montioli R, Oppici E, Dindo M, Roncador A, Gotte G, Cellini B, Borri Voltattorni C. Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine. Biochim Biophys Acta. 2015 Oct;1854(10 Pt A): 1280-9. doi: 10.1016/j.bbapap.2015.07.002. Epub 2015 Jul 3. PubMed PMID: 26149463.
  62. Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B. Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I. Hum Mol Genet. 2015 Oct 1;24(19):5500-11. doi: 10.1093/hmg/ddv276. Epub 2015 Jul 21. PubMed PMID: 26199318.
  63. Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J. Renal function can be impaired in children with primary hyperoxaluria type 3. Pediatr Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/ s00467-015-3090-x. Epub 2015 May 14. PubMed PMID: 25972204.
  64. Bollée G, Cochat P, Daudon M. Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria. Can J Kidney Health Dis. 2015 Sep 15;2:31. doi: 10.1186/s40697-015-0069-2. eCollection 2015. Review. PubMed PMID: 26380104; PubMed Central PMCID: PMC4570695.
  65. Oppici E, Montioli R, Cellini B. Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview. Biochim Biophys Acta. 2015 Sep;1854(9):1212-9. doi: 10.1016/j.bbapap.2014.12.029. Epub 2015 Jan 22. Review. PubMed PMID: 25620715.
  66. Kurt-Sukur ED, Özçakar ZB, Fitöz S, Yilmaz S, Hoppe B, Yalçinkaya F. Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. Klin Padiatr. 2015 Sep;227(5):293-5. doi: 10.1055/s-0035-1554638. Epub 2015 Jun 19. PubMed PMID: 26090995.
  67. Bacchetta J, Cochat P. Primary disease recurrence-effects on paediatric renal transplantation outcomes. Nat Rev Nephrol. 2015 Jun;11(6): 371-84. doi: 10.1038/nrneph.2015.54. Epub 2015 Apr 28. Review. PubMed PMID: 25917555.
  68. Mesa-Torres N, Tomic N, Albert A, Salido E, Pey AL. Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria. Biomolecules. 2015 Feb 13;5(1):121-41. doi: 10.3390/biom5010121. PubMed PMID: 25689234; PubMed Central PMCID: PMC4384115.
  69. Clifford-Mobley O, Tims C, Rumsby G. The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre. Ann Clin Biochem. 2015 Jan;52(Pt 1):113-21. doi: 10.1177/0004563214529937. Epub 2014 Apr 9. PubMed PMID: 24719216.
  70. Madoux F, Janovick JA, Smithson D, Fargue S, Danpure CJ, Scampavia L, Chen YT, Spicer TP, Conn PM. Development of a phenotypic highcontent assay to identify pharmacoperone drugs for the treatment of primary hyperoxaluria type 1 by high-throughput screening. Assay Drug Dev Technol. 2015 Jan-Feb;13(1):16-24. doi: 10.1089/adt.2014.627. PubMed PMID: 25710543.
  71. Marangella M, Marcuccio C, Vitale C. [Genetic approach to nephrolithiasis]. G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.7. Review. Italian. PubMed PMID: 26479054.
  72. Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G. Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118. PubMed PMID: 25629080; PubMed Central PMCID: PMC4299716.
  73. Mesa-Torres N, Salido E, Pey AL. The lower limits for protein stability and foldability in primary hyperoxaluria type I. Biochim Biophys Acta. 2014 Dec;1844(12):2355-65. doi: 10.1016/j.bbapap.2014.10.010. Epub 2014 Oct 18. PubMed PMID: 25461797.
  74. Fargue S. Factors influencing clinical outcome in patients with primary hyperoxaluria type 1. Kidney Int. 2014 Dec;86(6):1074-6. doi: 10.1038/ki.2014.280. PubMed PMID: 25427081.
  75. Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2. PubMed PMID: 24988064.
  76. Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Borri Voltattorni C. S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation. Hum Mol Genet. 2014 Nov 15;23(22):5998-6007. doi: 10.1093/hmg/ddu329. Epub 2014 Jul 2. PubMed PMID: 24990153; PubMed Central PMCID: PMC4204775.
  77. Miyata N, Steffen J, Johnson ME, Fargue S, Danpure CJ, Koehler CM. Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14406-11. doi: 10.1073/pnas.1408401111. Epub 2014 Sep 18. PubMed PMID: 25237136; PubMed Central PMCID: PMC4210028.
  78. Mesa-Torres N, Yunta C, Fabelo-Rosa I, Gonzalez-Rubio JM, Sánchez-Ruiz JM, Salido E, Albert A, Pey AL. The consensus-based approach for gene/enzyme replacement therapies and crystallization strategies: the case of human alanine-glyoxylate aminotransferase. Biochem J. 2014 Sep 15;462(3):453-63. doi: 10.1042/BJ20140250. PubMed PMID: 24957194.
  79. Lorenzo V, Torres A, Salido E. Primary hyperoxaluria. Nefrologia. 2014 May 21;34(3):398-412. doi: 10.3265/Nefrologia.pre2014.Jan.12335. Epub 2014 Apr 30. Review. English, Spanish. PubMed PMID: 24798559.
  80. Filler G, Hoppe B. Combined liver-kidney transplantation for hyperoxaluria type II? Pediatr Transplant. 2014 May;18(3):237-9. doi: 10.1111/petr.12243. PubMed PMID: 24708351.
  81. Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. PLoS One. 2014 Apr 9;9(4):e94338. doi: 10.1371/journal.pone.0094338. eCollection 2014. PubMed PMID: 24718375; PubMed Central PMCID: PMC3981788.
  82. Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B. Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77. doi: 10.2215/CJN.06820613. Epub 2014 Jan 2. PubMed PMID: 24385516; PubMed Central PMCID: PMC3944765.
  83. Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB. The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes. Clin Biochem. 2014 Feb;47(3): 158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16. Review. PubMed PMID: 24355692.
  84. Siener R, Bade DJ, Hesse A, Hoppe B. Dietary hyperoxaluria is not reduced by treatment with lactic acid bacteria. J Transl Med. 2013 Dec 12;11:306. doi: 10.1186/1479-5876-11-306. PubMed PMID: 24330782; PubMed Central PMCID: PMC4029792.
  85. Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase. Biochim Biophys Acta. 2013 Dec;1832(12): 2277-88. doi: 10.1016/j.bbadis.2013.09.002. Epub 2013 Sep 17. PubMed PMID: 24055001.
  86. Cochat P, Groothoff J. Primary hyperoxaluria type 1: practical and ethical issues. Pediatr Nephrol. 2013 Dec;28(12):2273-81. doi: 10.1007/s00467-013-2444-5. Epub 2013 Mar 14. Review. PubMed PMID: 23494551.
  87. Rumsby G, Cochat P. Primary hyperoxaluria. N Engl J Med. 2013 Nov 28;369(22):2163. doi: 10.1056/NEJMc1311606. PubMed PMID: 24283239.
  88. Fargue S, Rumsby G, Danpure CJ. Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta. 2013 Oct;1832(10):1776-83. doi: 10.1016/j.bbadis.2013.04.010. Epub 2013 Apr 15. PubMed PMID: 23597595.
  89. Mesa-Torres N, Fabelo-Rosa I, Riverol D, Yunta C, Albert A, Salido E, Pey AL. The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I. PLoS One. 2013 Aug 27;8(8):e71963. doi: 10.1371/journal.pone. 0071963. eCollection 2013. PubMed PMID: 24205397; PubMed Central PMCID: PMC3796444.
  90. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. Review. Erratum in: N Engl J Med. 2013 Nov 28;369(22):2168. PubMed PMID: 23944302.
  91. Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B. Kidney stones in primary hyperoxaluria: new lessons learnt. PLoS One. 2013 Aug 5;8(8):e70617. doi: 10.1371/journal.pone.0070617. Print 2013. PubMed PMID: 23940605; PubMed Central PMCID: PMC3734250.
  92. Monet C, Richard E, Missonnier S, Rebouissoux L, Llanas B, Harambat J. [Secondary hyperoxaluria and nephrocalcinosis due to ethylene glycol poisoning]. Arch Pediatr. 2013 Aug;20(8):863-6. doi: 10.1016/j.arcped. 2013.05.011. Epub 2013 Jul 1. French. PubMed PMID: 23827374.
  93. Oppici E, Fodor K, Paiardini A, Williams C, Voltattorni CB, Wilmanns M, Cellini B. Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications. Proteins. 2013 Aug; 81(8):1457-65. doi: 10.1002/prot.24300. Epub 2013 Jun 1. Erratum in: Proteins. 2014 Jan;82(1):171. PubMed PMID: 23589421; PubMed Central PMCID: PMC3810726.
  94. Lagies R, Beck BB, Hoppe B, Sreeram N, Udink Ten Cate FE. Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1. Circ Heart Fail. 2013 Jul;6(4):e45-7. doi: 10.1161/CIRCHEARTFAILURE.113.000432. PubMed PMID: 23861508.
  95. Al-Abadi E, Hulton SA. Extracorporal shock wave lithotripsy in the management of stones in children with oxalosis--still the first choice? Pediatr Nephrol. 2013 Jul;28(7):1085-9. doi: 10.1007/s00467-013-2424-9. Epub 2013 Feb 9. PubMed PMID: 23397522.
  96. Robijn S, Vervaet BA, Hoppe B, D'Haese PC, Verhulst A. Lanthanum carbonate inhibits intestinal oxalate absorption and prevents nephrocalcinosis after oxalate loading in rats. J Urol. 2013 May;189(5):1960-6. doi: 10.1016/j.juro.2012.12.004. Epub 2012 Dec 7. PubMed PMID: 23228382.
  97. Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. PubMed PMID: 22781098; PubMed Central PMCID: PMC3548260.
  98. Fargue S, Lewin J, Rumsby G, Danpure CJ. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem. 2013 Jan 25;288(4):2475-84. doi: 10.1074/ jbc.M112.432617. Epub 2012 Dec 10. PubMed PMID: 23229545; PubMed Central PMCID: PMC3554916.
  99. Pey AL, Albert A, Salido E. Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I. Biomed Res Int. 2013;2013:687658. doi: 10.1155/2013/687658. Epub 2013 Jul 16. Review. PubMed PMID: 23956997; PubMed Central PMCID: PMC3730394.
  100. Beck BB, Hoyer-Kuhn H, Göbel H, Habbig S, Hoppe B. Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions. Expert Opin Investig Drugs. 2013 Jan;22(1):117-29. doi: 10.1517/13543784.2013.741587. Epub 2012 Nov 21. Review. PubMed PMID: 23167815.
  101. Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL. Rapid profiling of disease alleles using a tunable reporter of protein misfolding. Genetics. 2012 Nov; 192(3):831-42. doi: 10.1534/genetics.112.143750. Epub 2012 Aug 24. PubMed PMID: 22923379; PubMed Central PMCID: PMC3522161.
  102. van der Hoeven SM, van Woerden CS, Groothoff JW. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant. 2012 Oct;27(10):3855-62. doi: 10.1093/ndt/gfs320. Epub 2012 Jul 27. PubMed PMID: 22844106.
  103. Salido E, Pey AL, Rodriguez R, Lorenzo V. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta. 2012 Sep; 1822(9):1453-64. doi: 10.1016/j.bbadis.2012.03.004. Epub 2012 Mar 14. Review. PubMed PMID: 22446032.
  104. Hoppe B. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. Nephrol Dial Transplant. 2012 Aug; 27(8):3024-6. doi: 10.1093/ndt/gfs308. PubMed PMID: 22851625.
  105. Williams EL, Bockenhauer D, van't Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5. PubMed PMID: 22391140.
  106. Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B. Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation? Nephrol Dial Transplant. 2012 Jul;27(7):2984-9. doi: 10.1093/ ndt/gfr776. Epub 2012 Jan 28. PubMed PMID: 22287658.
  107. Hueppelshaeuser R, von Unruh GE, Habbig S, Beck BB, Buderus S, Hesse A, Hoppe B. Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease. Pediatr Nephrol. 2012 Jul; 27(7):1103-9. doi: 10.1007/s00467-012-2126-8. Epub 2012 Feb 25. PubMed PMID: 22366809.
  108. Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012 Jun 12;8(8):467-75. doi: 10.1038/nrneph.2012.113. Review. PubMed PMID: 22688746.
  109. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012 May; 27(5):1729-36. doi: 10.1093/ndt/gfs078. PubMed PMID: 22547750.
  110. Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B. Primary hyperoxaluria presenting with early renal allograft dysfunction. Nephrology (Carlton). 2012 May;17(4):431. doi: 10.1111/j.1440-1797.2011.01534.x. PubMed PMID: 22509767.
  111. Knight J, Holmes RP, Cramer SD, Takayama T, Salido E. Hydroxyproline metabolism in mouse models of primary hyperoxaluria. Am J Physiol Renal Physiol. 2012 Mar 15;302(6):F688-93. doi: 10.1152/ajprenal.00473.2011. Epub 2011 Dec 21. PubMed PMID: 22189945; PubMed Central PMCID: PMC3311317.
  112. Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P; European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry. Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol. 2012 Mar;7(3):458-65. doi: 10.2215/CJN.07430711. Epub 2012 Jan 5. PubMed PMID: 22223608; PubMed Central PMCID: PMC3302673.
  113. Montioli R, Fargue S, Lewin J, Zamparelli C, Danpure CJ, Borri Voltattorni C, Cellini B. The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase. Int J Biochem Cell Biol. 2012 Mar;44(3):536-46. doi: 10.1016/ j.biocel.2011.12.007. Epub 2011 Dec 19. PubMed PMID: 22198249.
  114. Cellini B, Oppici E, Paiardini A, Montioli R. Molecular insights into primary hyperoxaluria type 1 pathogenesis. Front Biosci (Landmark Ed). 2012 Jan 1;17:621-34. Review. PubMed PMID: 22201765.
  115. Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. Mol Genet Metab. 2012 Jan;105(1):132-40. doi: 10.1016/j.ymgme. 2011.09.033. Epub 2011 Oct 5. PubMed PMID: 22018727; PubMed Central PMCID: PMC3271384.
  116. Habbig S, Beck BB, Hoppe B. Nephrocalcinosis and urolithiasis in children. Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki. 2011.336. Epub 2011 Sep 28. Erratum in: Kidney Int. 2012 Aug;82(4):493-7. PubMed PMID: 21956187.
  117. Robijn S, Hoppe B, Vervaet BA, D'Haese PC, Verhulst A. Hyperoxaluria: a gut-kidney axis? Kidney Int. 2011 Dec;80(11):1146-58. doi: 10.1038/ki.2011.287. Epub 2011 Aug 24. Review. PubMed PMID: 21866092.
  118. Pey AL, Salido E, Sanchez-Ruiz JM. Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria. Amino Acids. 2011 Nov;41(5):1233-45. doi: 10.1007/ s00726-010-0801-2. Epub 2010 Nov 20. PubMed PMID: 21103899.
  119. Cellini B, Montioli R, Voltattorni CB. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants. Biochim Biophys Acta. 2011 Nov;1814(11):1577-84. doi: 10.1016/j.bbapap.2010.12.005. Epub 2010 Dec 20. Review. PubMed PMID: 21176891.
  120. Hoppe B, Groothoff JW, Hulton SA, Cochat P, Niaudet P, Kemper MJ, Deschênes G, Unwin R, Milliner D. Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. Nephrol Dial Transplant. 2011 Nov;26(11):3609-15. doi: 10.1093/ndt/gfr107. Epub 2011 Apr 2. PubMed PMID: 21460356.
  121. Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB. Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis. Am J Kidney Dis. 2011 Sep;58(3):453-5. doi: 10.1053/j.ajkd.2011.05.012. Epub 2011 Jun 25. PubMed PMID: 21705122.
  122. Herden U, Kemper M, Ganschow R, Klaassen I, Grabhorn E, Brinkert F, Nashan B, Fischer L. Surgical aspects and outcome of combined liver and kidney transplantation in children. Transpl Int. 2011 Aug;24(8): 805-11. doi: 10.1111/j.1432-2277.2011.01278.x. Epub 2011 May 26. PubMed PMID: 21615550.
  123. Cochat P, Fargue S, Bacchetta J, Bertholet-Thomas A, Sabot JF, Harambat J. [Primary hyperoxaluria]. Nephrol Ther. 2011 Jul;7(4):249-59. doi: 10.1016/j.nephro.2011.03.004. Epub 2011 Jun 2. French. PubMed PMID: 21636340.
  124. Harps E, Brinkert F, Ganschow R, Briem-Richter A, van Husen M, Schmidtke S, Herden U, Nashan B, Fischer L, Kemper MJ. Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors. Transplantation. 2011 May 27;91(10): 1127-31. doi: 10.1097/TP.0b013e318216c1bb. PubMed PMID: 21544033.
  125. Rumsby G. Primary Hyperoxaluria Type 2. 2008 Dec 2 [updated 2011 May 5]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK2692/ PubMed PMID: 20301742.
  126. Salido E, Rodriguez-Pena M, Santana A, Beattie SG, Petry H, Torres A. Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer. Mol Ther. 2011 May; 19(5):870-5. doi: 10.1038/mt.2010.270. Epub 2010 Nov 30. PubMed PMID: 21119625; PubMed Central PMCID: PMC3098628.
  127. Mayordomo-Colunga J, Riverol D, Salido E, Santos F. Primary hyperoxaluria in a compound heterozygote infant. World J Pediatr. 2011 May; 7(2):173-5. doi: 10.1007/s12519-010-0214-z. Epub 2010 Jun 12. PubMed PMID: 20549407.
  128. Hatch M, Gjymishka A, Salido EC, Allison MJ, Freel RW. Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter. Am J Physiol Gastrointest Liver Physiol. 2011 Mar;300(3):G461-9. doi: 10.1152/ajpgi.00434.2010. Epub 2010 Dec 16. PubMed PMID: 21163900; PubMed Central PMCID: PMC3064122.
  129. Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P. Primary hyperoxaluria. Int J Nephrol. 2011;2011:864580. doi: 10.4061/2011/864580. Epub 2011 Jun 16. PubMed PMID: 21748001; PubMed Central PMCID: PMC3124893.
  130. Perera MT, Sharif K, Lloyd C, Foster K, Hulton SA, Mirza DF, McKiernan PJ. Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration. Nephrol Dial Transplant. 2011 Jan;26(1):354-9. doi: 10.1093/ndt/gfq353. Epub 2010 Jun 23. PubMed PMID: 20573805.
  131. Latta K. Calcium kidney stones. N Engl J Med. 2010 Dec 16;363(25):2470; author reply 2471. doi: 10.1056/NEJMc1011349#SA2. PubMed PMID: 21158673.
  132. Bergstralh EJ, Monico CG, Lieske JC, Herges RM, Langman CB, Hoppe B, Milliner DS; IPHR Investigators. Transplantation outcomes in primary hyperoxaluria. Am J Transplant. 2010 Nov;10(11):2493-501. doi: 10.1111/j.1600-6143.2010.03271.x. Epub 2010 Sep 17. PubMed PMID: 20849551; PubMed Central PMCID: PMC2965313.
  133. Hernández-Fernaud JR, Salido E. Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I. FEBS J. 2010 Nov;277(22):4766-74. doi: 10.1111/j.1742-4658.2010.07882.x. Epub 2010 Oct 6. PubMed PMID: 20977670.
  134. Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A. Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. J Nephrol. 2010 Nov-Dec;23(6):667-76. PubMed PMID: 20564000.
  135. Cochat P, Fargue S, Harambat J. Primary hyperoxaluria type 1: strategy for organ transplantation. Curr Opin Organ Transplant. 2010 Oct; 15(5):590-3. doi: 10.1097/MOT.0b013e32833e35f5. Review. PubMed PMID: 20733487.
  136. Spasovski G, Beck BB, Blau N, Hoppe B, Tasic V. Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol. 2010 Sep;42(3):825-9. doi: 10.1007/s11255-009-9690-2. Epub 2009 Dec 18. PubMed PMID: 20020206.
  137. Andrieux A, Harambat J, Bui S, Nacka F, Iron A, Llanas B, Fayon M. Renal impairment in children with cystic fibrosis. J Cyst Fibros. 2010 Jul;9(4):263-8. doi: 10.1016/j.jcf.2010.03.006. Epub 2010 Apr 21. PubMed PMID: 20413352.
  138. Bacchetta J, Fargue S, Boutroy S, Basmaison O, Vilayphiou N, Plotton I, Guebre-Egziabher F, Dohin B, Kohler R, Cochat P. Bone metabolism in oxalosis: a single-center study using new imaging techniques and biomarkers. Pediatr Nephrol. 2010 Jun;25(6):1081-9. doi: 10.1007/s00467-010-1453-x. Epub 2010 Mar 6. PubMed PMID: 20213134.
  139. Robbiano A, Mandrile G, De Marchi M, Beck B, Baasner A, Murer L, Benetti E, Giachino D. Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria. Hum Genet. 2010 Apr;127(4):468. PubMed PMID: 21488232.
  140. Djordjevic S, Zhang X, Bartlam M, Ye S, Rao Z, Danpure CJ. Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2010 Mar 1;66(Pt 3):233-6. doi: 10.1107/S1744309109054645. Epub 2010 Feb 23. PubMed PMID: 20208150; PubMed Central PMCID: PMC2833026.
  141. Hoppe B. Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1. Kidney Int. 2010 Mar;77(5):383-5. doi: 10.1038/ki.2009.471. PubMed PMID: 20150937.
  142. Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott AM, Rolland MO, Cochat P. Genotypephenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010 Mar;77(5):443-9. doi: 10.1038/ki.2009.435. Epub 2009 Dec 16. PubMed PMID: 20016466.
  143. Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A. Nephrolithiasis related to inborn metabolic diseases. Pediatr Nephrol. 2010 Mar;25(3):415-24. doi: 10.1007/s00467-008-1085-6. Epub 2009 Jan 21. Review. PubMed PMID: 19156444; PubMed Central PMCID: PMC2810370.
  144. Albert A, Yunta C, Arranz R, Peña A, Salido E, Valpuesta JM, Martín-Benito J. Structure of GroEL in complex with an early folding intermediate of alanine glyoxylate aminotransferase. J Biol Chem. 2010 Feb 26;285(9): 6371-6. doi: 10.1074/jbc.M109.062471. Epub 2010 Jan 7. PubMed PMID: 20056599; PubMed Central PMCID: PMC2825432.
  145. Cellini B, Montioli R, Paiardini A, Lorenzetto A, Maset F, Bellini T, Oppici E, Voltattorni CB. Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2896-901. doi: 10.1073/pnas.0908565107. Epub 2010 Feb 1. PubMed PMID: 20133649; PubMed Central PMCID: PMC2840350.
  146. Cochat P, Fargue S, Mestrallet G, Jungraithmayr T, Koch- Nogueira P, Ranchin B, Zimmerhackl LB. Disease recurrence in paediatric renal transplantation. Pediatr Nephrol. 2009 Nov;24(11):2097-108. doi: 10.1007/ s00467-009-1137-6. Epub 2009 Feb 27. Review. PubMed PMID: 19247694; PubMed Central PMCID: PMC2753770.
  147. Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P. Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. Kidney Int. 2009 Oct;76(7):767-73. doi: 10.1038/ki.2009.237. Epub 2009 Jul 1. PubMed PMID: 19571789.
  148. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review. PubMed PMID: 19479957.
  149. Heiene R, Rumsby G, Ziener M, Dahl SA, Tims C, Teige J, Ottesen N. Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats. J Feline Med Surg. 2009 Jun;11(6):474-80. doi: 10.1016/j.jfms. 2008.11.003. Epub 2008 Dec 17. PubMed PMID: 19095478.
  150. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009 Jun;75(12):1264-71. doi: 10.1038/ki.2009.32. Epub 2009 Feb 18. Review. PubMed PMID: 19225556; PubMed Central PMCID: PMC4577278.
  151. Price KL, Hulton SA, van't Hoff WG, Masters JR, Rumsby G. Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria. Urol Res. 2009 Jun;37(3):127-32. doi: 10.1007/ s00240-009-0185-5. Epub 2009 Mar 13. PubMed PMID: 19283374.
  152. Brinkert F, Ganschow R, Helmke K, Harps E, Fischer L, Nashan B, Hoppe B, Kulke S, Müller-Wiefel DE, Kemper MJ. Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth. Transplantation. 2009 May 15;87(9):1415-21. doi: 10.1097/TP.0b013e3181a27939. PubMed PMID: 19424045.
  153. Sikora P, Beck B, Zajaczkowska M, Hoppe B. Plasma oxalate level in pediatric calcium stone formers with or without secondary hyperoxaluria. Urol Res. 2009 Apr;37(2):101-5. doi: 10.1007/s00240-009-0179-3. Epub 2009 Jan 30. PubMed PMID: 19183975.
  154. Cellini B, Montioli R, Paiardini A, Lorenzetto A, Voltattorni CB. Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. J Biol Chem. 2009 Mar 27;284(13):8349-58. doi: 10.1074/jbc.M808965200. Epub 2009 Jan 20. PubMed PMID: 19155213; PubMed Central PMCID: PMC2659193.
  155. Grujic D, Salido EC, Shenoy BC, Langman CB, McGrath ME, Patel RJ, Rashid A, Mandapati S, Jung CW, Margolin AL. Hyperoxaluria is reduced and nephrocalcinosis prevented with an oxalate-degrading enzyme in mice with hyperoxaluria. Am J Nephrol. 2009;29(2):86-93. doi: 10.1159/000151395. Epub 2008 Aug 12. PubMed PMID: 18698135.
  156. Vervaet BA, Verhulst A, Dauwe SE, De Broe ME, D'Haese PC. An active renal crystal clearance mechanism in rat and man. Kidney Int. 2009 Jan;75(1):41-51. doi: 10.1038/ki.2008.450. Epub 2008 Sep 10. PubMed PMID: 18784645.
  157. Rumsby G. Oxalate transport as contributor to primary hyperoxaluria: the jury is still out. Am J Kidney Dis. 2008 Dec;52(6):1031-4. doi: 10.1053/j.ajkd.2008.10.004. PubMed PMID: 19026355.
  158. Stapenhorst L, Hesse A, Hoppe B. Hyperoxaluria after ethylene glycol poisoning. Pediatr Nephrol. 2008 Dec;23(12):2277-9. doi: 10.1007/s00467-008-0917-8. Epub 2008 Aug 12. PubMed PMID: 18696123.
  159. Mandrile G, Robbiano A, Giachino DF, Sebastiano R, Dondi E, Fenoglio R, Stratta P, Caruso MR, Petrarulo M, Marangella M, De Marchi M. Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance. Urol Res. 2008 Dec;36(6):309-12. doi: 10.1007/ s00240-008-0162-4. Epub 2008 Nov 5. PubMed PMID: 18985333.
  160. Tasic V, Korneti P, Gucev Z, Hoppe B, Blau N, Cheong HI. Atypical presentation of distal renal tubular acidosis in two siblings. Pediatr Nephrol. 2008 Jul;23(7):1177-81. doi: 10.1007/s00467-008-0796-z. Epub 2008 Apr 2. PubMed PMID: 18386070.
  161. Jiang J, Salido EC, Guha C, Wang X, Moitra R, Liu L, Roy-Chowdhury J, Roy-Chowdhury N. Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1. Transplantation. 2008 May 15;85(9):1253-60. doi: 10.1097/TP.0b013e31816de49e. PubMed PMID: 18475180.
  162. Marangella M, Vitale C, Bagnis C, Petrarulo M, Tricerri A. Use of drugs for nephrolithiasis. Clin Cases Miner Bone Metab. 2008 May;5(2): 131-4. PubMed PMID: 22460995; PubMed Central PMCID: PMC2781201.
  163. Sikora P, von Unruh GE, Beck B, Feldkötter M, Zajaczkowska M, Hesse A, Hoppe B. [13C2]oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria. Kidney Int. 2008 May; 73(10):1181-6. doi: 10.1038/ki.2008.63. Epub 2008 Mar 12. PubMed PMID: 18337715.
  164. Canavese C, Marangella M, Stratta P. Think of oxalate when using ascorbate supplementation to optimize iron therapy in dialysis patients. Nephrol Dial Transplant. 2008 Apr;23(4):1463-4; author reply 1464. Epub 2007 Nov 19. PubMed PMID: 18029374.
  165. Vargas-Poussou R, Cochat P, Le Pottier N, Roncelin I, Liutkus A, Blanchard A, Jeunemaître X. Report of a family with two different hereditary diseases leading to early nephrocalcinosis. Pediatr Nephrol. 2008 Jan; 23(1):149-53. Epub 2007 Sep 26. PubMed PMID: 17899212.
  166. Sikora P, Borzecka H, Wieczorkiewicz-Plaza A, Majewski M, Ksiazek E, Zajaczkowska M. [Coexistence of nephrocalcinosis and renal failure in children--own experiences]. Pol Merkur Lekarski. 2008;24 Suppl 4:80-3. Polish. PubMed PMID: 18924511.
  167. Sikora P, Bienias B, Wawrzyszuk M, Zajaczkowska M. [24- hour urinary oxalate excretion in healthy children and in children with calcium urolithiasis]. Pol Merkur Lekarski. 2008;24 Suppl 4:76-9. Polish. PubMed PMID: 18924510.
  168. Cellini B, Montioli R, Bianconi S, López-Alonso JP, Voltattorni CB. Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli. Protein Pept Lett. 2008;15(2):153-9. PubMed PMID: 18289107.
  169. Cellini B, Bertoldi M, Montioli R, Paiardini A, Borri Voltattorni C. Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. Biochem J. 2007 Nov 15;408(1):39-50. PubMed PMID: 17696873; PubMed Central PMCID: PMC2049084.
  170. van Woerden CS, Huidekoper HH, Groothoff JW, Wijburg FA, Duran M. Postponing urine acidification for 24 h does not change the oxalate concentration. Clin Chim Acta. 2007 Sep;384(1-2):184-5. Epub 2007 Jun 16. PubMed PMID: 17659269.
  171. van Woerden CS, Groothoff JW, Wijburg FA, Waterham HR, Wanders RJ, Janssen MJ, Duran M. Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis. Clin Chem. 2007 Aug;53(8):1553-5. PubMed PMID: 17644794.
  172. Williams E, Rumsby G. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin Chem. 2007 Jul;53(7):1216-21. Epub 2007 May 10. PubMed PMID: 17495019.
  173. Danpure CJ. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta. 2006 Dec;1763(12):1776-84. Epub 2006 Aug 24. Review. PubMed PMID: 17027096.
  174. Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro LJ, Roy-Chowdhury J. Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54. Epub 2006 Nov 16. PubMed PMID: 17110443; PubMed Central PMCID: PMC1838738.
  175. Illies F, Bonzel KE, Wingen AM, Latta K, Hoyer PF. Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. Kidney Int. 2006 Nov;70(9):1642-8. Epub 2006 Sep 6. PubMed PMID: 16955107.
  176. Hoppe B, Beck B, Gatter N, von Unruh G, Tischer A, Hesse A, Laube N, Kaul P, Sidhu H. Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int. 2006 Oct;70(7):1305-11. Epub 2006 Jul 19. PubMed PMID: 16850020.
  177. Williams EL, Kemper MJ, Rumsby G. A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1. Am J Kidney Dis. 2006 Sep;48(3):481-3. PubMed PMID: 16931222.
  178. Beck BB, Hoppe B. Is there a genotype-phenotype correlation in primary hyperoxaluria type 1? Kidney Int. 2006 Sep;70(6):984-6. PubMed PMID: 16957746.
  179. Lorenzo V, Alvarez A, Torres A, Torregrosa V, Hernández D, Salido E. Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. Kidney Int. 2006 Sep;70(6):1115-9. Epub 2006 Aug 16. PubMed PMID: 16912707.
  180. van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT. High incidence of hyperoxaluria in generalized peroxisomal disorders. Mol Genet Metab. 2006 Aug;88(4):346-50. Epub 2006 Apr 18. PubMed PMID: 16621644.
  181. Rumsby G. Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? Nephrol Dial Transplant. 2006 Aug; 21(8):2063-4. Epub 2006 Jul 4. PubMed PMID: 16820377.
  182. Cochat P, Liutkus A, Fargue S, Basmaison O, Ranchin B, Rolland MO. Primary hyperoxaluria type 1: still challenging! Pediatr Nephrol. 2006 Aug;21(8):1075-81. Epub 2006 Jun 30. Review. PubMed PMID: 16810517.
  183. van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR. [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]. Ned Tijdschr Geneeskd. 2006 Jul 29;150(30):1669-72. Review. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2006 Nov 4;150(44):2460. PubMed PMID: 16922352.
  184. Nissel R, Latta K, Gagnadoux MF, Kelly D, Hulton S, Kemper MJ, Ruder H, Söderdahl G, Otte JB, Cochat P, Roquet O, Jamieson NV, Haffner D. Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1. Transplantation. 2006 Jul 15;82(1): 48-54. PubMed PMID: 16861941.
  185. Terribile M, Capuano M, Cangiano G, Carnovale V, Ferrara P, Petrarulo M, Marangella M. Factors increasing the risk for stone formation in adult patients with cystic fibrosis. Nephrol Dial Transplant. 2006 Jul; 21(7):1870-5. Epub 2006 Apr 4. PubMed PMID: 16595587.
  186. Booth MP, Conners R, Rumsby G, Brady RL. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. J Mol Biol. 2006 Jun 30;360(1):178-89. Epub 2006 May 22. PubMed PMID: 16756993.
  187. Basmaison O, Liutkus A, Michel L, Cordier MP, Cochat P. [Inherited renal diseases and prenatal diagnosis]. Arch Pediatr. 2006 Jun; 13(6):727-9. Epub 2006 May 11. French. PubMed PMID: 16697565.
  188. Bichler KH. Thirty-eight years of stone meetings in Europe. Urol Res. 2006 Apr;34(2):70-8. Epub 2006 Feb 28. PubMed PMID: 16506036.
  189. Behnam JT, Williams EL, Brink S, Rumsby G, Danpure CJ. Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. Biochem J. 2006 Mar 1;394(Pt 2): 409-16. PubMed PMID: 16309382; PubMed Central PMCID: PMC1408671.
  190. Sikora P, Bienias B, Majewski M, Borzecka H, Wawrzyszuk M, Zajaczkowska M. [Urinary citrate excretion in children with calcium urolithiasis]. Przegl Lek. 2006;63 Suppl 3:134-6. Polish. PubMed PMID: 16898511.
  191. Bhat S, Williams EL, Rumsby G. Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. Clin Chem. 2005 Dec;51(12): 2423-5. PubMed PMID: 16306119.
  192. Kemper MJ. Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1? Pediatr Transplant. 2005 Dec;9(6):693-6. Review. PubMed PMID: 16269037.
  193. Kemper MJ. The role of preemptive liver transplantation in primary hyperoxaluria type 1. Urol Res. 2005 Nov;33(5):376-9. Epub 2005 Nov 13. Review. PubMed PMID: 16284878.
  194. Hoppe B, von Unruh G, Laube N, Hesse A, Sidhu H. Oxalate degrading bacteria: new treatment option for patients with primary and secondary hyperoxaluria? Urol Res. 2005 Nov;33(5):372-5. Epub 2005 Nov 13. Review. PubMed PMID: 16284877.
  195. Rumsby G. An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. Urol Res. 2005 Nov;33(5):318-20. Epub 2005 Oct 6. Review. PubMed PMID: 16208537.
  196. Laube N, Hoppe B, Hesse A. Problems in the investigation of urine from patients suffering from primary hyperoxaluria type 1. Urol Res. 2005 Nov;33(5):394-7. Epub 2005 Sep 8. PubMed PMID: 16151774.
  197. Straub M, Hautmann RE, Hesse A, Rinnab L. [Calcium oxalate stones and hyperoxaluria. What is certain? What is new?]. Urologe A. 2005 Nov;44(11):1315-23. Review. German. PubMed PMID: 16235094.
  198. Hoppe B, von Unruh GE, Blank G, Rietschel E, Sidhu H, Laube N, Hesse A. Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis. Am J Kidney Dis. 2005 Sep;46(3):440-5. PubMed PMID: 16129205.
  199. Franchello A, Paraluppi G, Romagnoli R, Petrarulo M, Vitale C, Pacitti A, Amoroso A, Marangella M, Salizzoni M. Severe course of primary hyperoxaluria and renal failure after domino hepatic transplantation. Am J Transplant. 2005 Sep;5(9):2324-7. PubMed PMID: 16095518.
  200. Danpure CJ. Primary hyperoxaluria: from gene defects to designer drugs? Nephrol Dial Transplant. 2005 Aug;20(8):1525-9. Epub 2005 Jun 14. PubMed PMID: 15956068.
  201. Coppo R, Amore A, Peruzzi L, Conti G, Roasio L, Amoroso A. [Kidney transplantation in children]. G Ital Nefrol. 2005 Jul-Aug; 22(4):337-47. Review. Italian. PubMed PMID: 16267794.
  202. Danpure CJ. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment. Am J Nephrol. 2005 May-Jun;25(3): 303-10. Epub 2005 Jun 15. Review. PubMed PMID: 15961951.
  203. Hoppe B, Latta K, von Schnakenburg C, Kemper MJ. Primary hyperoxaluria--the German experience. Am J Nephrol. 2005 May-Jun;25(3):276-81. Epub 2005 Jun 15. PubMed PMID: 15961947.
  204. Frishberg Y, Rinat C, Shalata A, Khatib I, Feinstein S, Becker-Cohen R, Weismann I, Wanders RJ, Rumsby G, Roels F, Mandel H. Intrafamilial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol. 2005 May-Jun;25(3):269-75. Epub 2005 Jun 15. PubMed PMID: 15961946.
  205. Stapenhorst L, Sassen R, Beck B, Laube N, Hesse A, Hoppe B. Hypocitraturia as a risk factor for nephrocalcinosis after kidney transplantation. Pediatr Nephrol. 2005 May;20(5):652-6. Epub 2005 Mar 22. PubMed PMID: 15782300.
  206. Leumann E, Hoppe B. Primary hyperoxaluria type 1: is genotyping clinically helpful? Pediatr Nephrol. 2005 May;20(5):555-7. Epub 2005 Mar 17. Review. PubMed PMID: 15772831.
  207. Canavese C, Petrarulo M, Massarenti P, Berutti S, Fenoglio R, Pauletto D, Lanfranco G, Bergamo D, Sandri L, Marangella M. Long-term, low-dose, intravenous vitamin C leads to plasma calcium oxalate supersaturation in hemodialysis patients. Am J Kidney Dis. 2005 Mar;45(3):540-9. PubMed PMID: 15754276.
  208. Guha C, Yamanouchi K, Jiang J, Wang X, Roy Chowdhury N, Santana A, Shapiro LJ, Salido E, Roy-Chowdhury J. Feasibility of hepatocyte transplantation-based therapies for primary hyperoxalurias. Am J Nephrol. 2005 Mar- Apr;25(2):161-70. Epub 2005 Apr 21. PubMed PMID: 15849463.
  209. Chevalier-Porst F, Rolland MO, Cochat P, Bozon D. Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. Am J Med Genet A. 2005 Jan 1;132A(1):80-3. PubMed PMID: 15580638.
  210. Herrmann G, Krieg T, Weber M, Sidhu H, Hoppe B. Unusual painful sclerotic plaques on the legs of a patient with late diagnosis of primary hyperoxaluria type I. Br J Dermatol. 2004 Nov;151(5):1104-7. PubMed PMID: 15541098.
  211. Maringhini S, D'Alessandro MM, Di Martino A, Stella M, Raiata F, Marangella M. [Severe renal failure in a child]. G Ital Nefrol. 2004 Nov-Dec;21(6):581-6. Italian. PubMed PMID: 15593027.
  212. Rumsby G, Williams E, Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int. 2004 Sep;66(3):959-63. PubMed PMID: 15327387.
  213. Coulter-Mackie MB, Rumsby G. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):38-46. Review. PubMed PMID: 15464418.
  214. van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 2004 Aug;66(2):746-52. PubMed PMID: 15253729.
  215. Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger- Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A. 2004 May 1;126A(4):333-8. PubMed PMID: 15098231.
  216. Ulinski T, Sabot JF, Bourlon I, Cochat P. Bilateral urinary calculi after treatment with a silicate-containing milk thickener. Eur J Pediatr. 2004 Apr;163(4-5):239-40. Epub 2004 Feb 7. PubMed PMID: 14767764.
  217. Danpure CJ, Rumsby G. Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med. 2004 Jan 9;6(1):1-16. Review. PubMed PMID: 14987413.
  218. Hoppe B, Leumann E. Diagnostic and therapeutic strategies in hyperoxaluria: a plea for early intervention. Nephrol Dial Transplant. 2004 Jan;19(1):39-42. Review. PubMed PMID: 14671036.
  219. Danpure CJ. Molecular aetiology of primary hyperoxaluria type 1. Nephron Exp Nephrol. 2004;98(2):e39-44. Review. PubMed PMID: 15499210.
  220. Johnson SA, Hulton SA. Primary hyperoxaluria. Saudi J Kidney Dis Transpl. 2004 Jan-Mar;15(1):41-9. PubMed PMID: 18202465.
  221. Cregeen DP, Williams EL, Hulton S, Rumsby G. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat. 2003 Dec;22(6):497. PubMed PMID: 14635115.
  222. Asselman M, Verhulst A, De Broe ME, Verkoelen CF. Calcium oxalate crystal adherence to hyaluronan-, osteopontin-, and CD44-expressing injured/regenerating tubular epithelial cells in rat kidneys. J Am Soc Nephrol. 2003 Dec;14(12):3155-66. PubMed PMID: 14638914.
  223. Sikora P, Glatz S, Beck BB, Stapenhorst L, Zajaczkowska M, Hesse A, Hoppe B. Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. Pediatr Nephrol. 2003 Oct;18(10):996-9. Epub 2003 Aug 13. PubMed PMID: 12920632.
  224. Hoppe B, Langman CB. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol. 2003 Oct; 18(10):986-91. Epub 2003 Aug 15. PubMed PMID: 12920626.
  225. Hoppe B, Leumann E, von Unruh G, Laube N, Hesse A. Diagnostic and therapeutic approaches in patients with secondary hyperoxaluria. Front Biosci. 2003 Sep 1;8:e437-43. Review. PubMed PMID: 12957811.
  226. Lumb MJ, Birdsey GM, Danpure CJ. Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro. Biochem J. 2003 Aug 15;374(Pt 1):79-87. PubMed PMID: 12737622; PubMed Central PMCID: PMC1223567.
  227. Zhang X, Roe SM, Hou Y, Bartlam M, Rao Z, Pearl LH, Danpure CJ. Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. J Mol Biol. 2003 Aug 15;331(3):643-52. PubMed PMID: 12899834.
  228. Mehler K, Stapenhorst L, Beck B, Hoppe B. Hyperoxaluria in patients with primary distal renal tubular acidosis. Pediatr Nephrol. 2003 Jul;18(7):722-3. Epub 2003 May 1. PubMed PMID: 12728365.
  229. Santana A, Salido E, Torres A, Shapiro LJ. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7277-82. Epub 2003 May 30. PubMed PMID: 12777626; PubMed Central PMCID: PMC165866.
  230. von Schnakenburg C, Rumsby G, Hoppe B, Latta K, Kemper M. Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1. Pediatr Nephrol. 2003 May;18(5):482-3; author reply 484. Epub 2003 Apr 5. PubMed PMID: 12687460.
  231. Danpure CJ, Lumb MJ, Birdsey GM, Zhang X. Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):70-5. Review. PubMed PMID: 12686111.
  232. Pirulli D, Marangella M, Amoroso A. Primary hyperoxaluria: genotype-phenotype correlation. J Nephrol. 2003 Mar-Apr; 16(2):297-309. Review. PubMed PMID: 12768081.
  233. van Woerden CS, Groothoff JW, Wanders RJ, Davin JC, Wijburg FA. Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant. 2003 Feb;18(2):273-9. PubMed PMID: 12543880.
  234. Santana A, Torres A, Salido E. [Molecular pathology of primary hyperoxaluria]. Nefrologia. 2003;23 Suppl 1:90-7. Review. Spanish. PubMed PMID: 12708368.
  235. Straub B, Müller M, Schrader M, Goessl C, Heicappell R, Miller K. Intestinal and renal handling of oxalate in magnesium-deficient rats. Evaluation of intestinal in vivo 14C-oxalate perfusion. BJU Int. 2002 Aug; 90(3):312-6. PubMed PMID: 12133071.
  236. Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS. Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int. 2002 Aug;62(2):392-400. PubMed PMID: 12110000.
  237. Johnson SA, Rumsby G, Cregeen D, Hulton SA. Primary hyperoxaluria type 2 in children. Pediatr Nephrol. 2002 Aug;17(8):597-601. Epub 2002 Jun 6. PubMed PMID: 12185464.
  238. Zhang X, Roe SM, Pearl LH, Danpure CJ. Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants. Acta Crystallogr D Biol Crystallogr. 2001 Dec;57(Pt 12):1936-7. Epub 2001 Nov 21. PubMed PMID: 11717523.
  239. Coulter-Mackie MB, Rumsby G, Applegarth DA, Toone JR. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. Mol Genet Metab. 2001 Nov;74(3):314-21. PubMed PMID: 11708860.
  240. Behnke B, Kemper MJ, Kruse HP, Müller-Wiefel DE. Bone mineral density in children with primary hyperoxaluria type I. Nephrol Dial Transplant. 2001 Nov;16(11):2236-9. PubMed PMID: 11682674.
  241. Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. J Am Soc Nephrol. 2001 Oct; 12(10):2072-9. PubMed PMID: 11562405.
  242. Kemper MJ, Burdelski M, Müller-Wiefel DE. Combined liver-kidney transplantation for primary hyperoxaluria type 1. Nephrol Dial Transplant. 2001 Oct;16(10):2113-4. PubMed PMID: 11572916.
  243. Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol. 2001 Sep;12(9):1986-93. Review. PubMed PMID: 11518794.
  244. Rumsby G, Sharma A, Cregeen DP, Solomon LR. Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? Nephrol Dial Transplant. 2001 Aug;16(8):1697-9. PubMed PMID: 11477177.
  245. Pirulli D, Giordano M, Lessi M, Spanò A, Puzzer D, Zezlina S, Boniotto M, Crovella S, Florian F, Marangella M, Momigliano-Richiardi P, Savoldi S, Amoroso A. Detection of AGXT bgene mutations by denaturing highperformance liquid chromatography for diagnosis of hyperoxaluria type 1. Clin Exp Med. 2001 Jun;1(2):99-104. PubMed PMID: 11699734.
  246. Ellis SR, Hulton SA, McKiernan PJ, de Ville de Goyet J, Kelly DA. Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children. Nephrol Dial Transplant. 2001 Feb;16(2):348-54. PubMed PMID: 11158411.
  247. Ganschow R, Lyons M, Kemper MJ, Burdelski M. B-cell dysfunction and depletion using mycophenolate mofetil in a pediatric combined liver and kidney graft recipient. Pediatr Transplant. 2001 Feb;5(1):60-3. PubMed PMID: 11260491.
  248. Marangella M, Petrarulo M, Vitale C, Bagnis C, Berutti S, Ramello A, Amoroso A. The primary hyperoxalurias. Contrib Nephrol. 2001;(136): 11-32. Review. PubMed PMID: 11688375.
  249. David-Walek T, Niederstadt C, Rob PM, Fricke L, Latta K, Steinhoff J, Stange EF. Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient. Nephron. 2001 Jan;87(1):80-4. PubMed PMID: 11174030.
  250. Lumb MJ, Danpure CJ. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. J Biol Chem. 2000 Nov 17;275(46):36415-22. PubMed PMID: 10960483.
  251. Pirulli D, Boniotto M, Puzzer D, Spanò A, Amoroso A, Crovella S. Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria. Clin Chem. 2000 Nov;46(11):1842-4. PubMed PMID: 11067824.
  252. Marangella M, Vitale C, Petrarulo M, Bagnis C, Bruno M, Ramello A. Renal stones: from metabolic to physicochemical abnormalities. How useful are inhibitors? J Nephrol. 2000 Nov-Dec;13 Suppl 3:S51-60. Review. PubMed PMID: 11132033.
  253. Nolkemper D, Kemper MJ, Burdelski M, Vaismann I, Rogiers X, Broelsch CE, Ganschow R, Müller-Wiefel DE. Long-term results of preemptive liver transplantation in primary hyperoxaluria type 1. Pediatr Transplant. 2000 Aug;4(3):177-81. PubMed PMID: 10933316.
  254. Leumann E, Hoppe B. Pre-emptive liver transplantation in primary hyperoxaluria type 1: a controversial issue. Pediatr Transplant. 2000 Aug;4(3):161-4. Review. PubMed PMID: 10933312.
  255. Cochat P, Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child. 2000 Jun;82(6):470-3. Review. PubMed PMID: 10833178; PubMed Central PMCID: PMC1718347.
  256. Basmaison O, Rolland MO, Cochat P, Bozon D. Identification of 5 novel mutations in the AGXT gene. Hum Mutat. 2000 Jun;15(6):577. PubMed PMID: 10862087.
  257. Neuhaus TJ, Belzer T, Blau N, Hoppe B, Sidhu H, Leumann E. Urinary oxalate excretion in urolithiasis and nephrocalcinosis. Arch Dis Child. 2000 Apr;82(4):322-6. PubMed PMID: 10735843; PubMed Central PMCID: PMC1718279.
  258. Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. Hum Mutat. 2000 Apr;15(4):384-5. PubMed PMID: 10737993.
  259. Rumsby G. Biochemical and genetic diagnosis of the primary hyperoxalurias: a review. Mol Urol. 2000 Winter;4(4):349-54. PubMed PMID: 11156702.
  260. Cochat P, Gaulier JM, Koch Nogueira PC, Feber J, Jamieson NV, Rolland MO, Divry P, Bozon D, Dubourg L. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr. 1999 Dec;158 Suppl 2:S75-80. Review. PubMed PMID: 10603104.
  261. Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV, Scheinman JI, Rolland MO. Primary hyperoxaluria in infants: medical, ethical, and economic issues. J Pediatr. 1999 Dec;135(6):746-50. PubMed PMID: 10586179.
  262. Rinat C, Wanders RJ, Drukker A, Halle D, Frishberg Y. Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. J Am Soc Nephrol. 1999 Nov;10(11):2352-8. PubMed PMID: 10541294.
  263. Cregeen DP, Rumsby G. Recent developments in our understanding of primary hyperoxaluria type 2. J Am Soc Nephrol. 1999 Nov;10 Suppl 14:S348-50. PubMed PMID: 10541261.
  264. Leumann E, Hoppe B. What is new in primary hyperoxaluria? Nephrol Dial Transplant. 1999 Nov;14(11):2556-8. Review. PubMed PMID: 10534483.
  265. Rumsby G, Cregeen DP. Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase. Biochim Biophys Acta. 1999 Sep 3;1446(3):383-8. PubMed PMID: 10524214.
  266. Lumb MJ, Drake AF, Danpure CJ. Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase. J Biol Chem. 1999 Jul 16;274(29):20587-96. PubMed PMID: 10400689.
  267. Hoppe B, Kemper MJ, Bökenkamp A, Portale AA, Cohn RA, Langman CB. Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int. 1999 Jul;56(1):268-74. PubMed PMID: 10411702.
  268. Pirulli D, Puzzer D, Ferri L, Crovella S, Amoroso A, Ferrettini C, Marangella M, Mazzola G, Florian F. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. Hum Genet. 1999 Jun;104(6):523-5. PubMed PMID: 10453743.
  269. Cochat P. Primary hyperoxaluria type 1. Kidney Int. 1999 Jun;55(6):2533-47. Review. PubMed PMID: 10354306.
  270. Vitale C, Tricerri A, Manganaro M, Bagnis C, Bruno M, Marangella M, Ramello A. [Clinical and metabolic features of renal calculi in adults in regard to age of onset]. Minerva Urol Nefrol. 1999 Jun;51(2):71-4. Italian. PubMed PMID: 10429414.
  271. Amoroso A, Pirulli D, Puzzer D, Ferri L, Crovella S, Ferrettini C, Marangella M, Mazzola G, Florian F. Gene symbol: AGXT. Disease: primary hyperoxaluria type I. Hum Genet. 1999 May;104(5):441. PubMed PMID: 10394939.
  272. Li XM, Salido EC, Shapiro LJ. The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1. Somat Cell Mol Genet. 1999 Mar;25(2):67-77. PubMed PMID: 11225057.
  273. Marangella M. Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness. Nephrol Dial Transplant. 1999 Feb;14(2):301-3. Review. PubMed PMID: 10069180.
  274. Sidhu H, Hoppe B, Hesse A, Tenbrock K, Brömme S, Rietschel E, Peck AB. Absence of Oxalobacter formigenes in cystic fibrosis patients: a risk factor for hyperoxaluria. Lancet. 1998 Sep 26;352(9133):1026-9. PubMed PMID: 9759746.
  275. Hoppe B, Kemper MJ, Bökenkamp A, Langman CB. Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria. Kidney Int. 1998 Sep;54(3):921-5. PubMed PMID: 9734617.
  276. Hoppe B, Hesse A, Brömme S, Rietschel E, Michalk D. Urinary excretion substances in patients with cystic fibrosis: risk of urolithiasis? Pediatr Nephrol. 1998 May;12(4):275-9. PubMed PMID: 9655356.
  277. Rumsby G, Samuell C. Availability of assays for definitive diagnosis of primary hyperoxaluria types 1 and 2. Clin Chem. 1998 Mar; 44(3):694. PubMed PMID: 9510895.
  278. Gaulier JM, Lardet G, Cochat P, Vallon JJ. A serum oxalate assay using chemiluminescence detection, adapted to a paediatric population. J Nephrol. 1998 Mar-Apr;11 Suppl 1:73-4. PubMed PMID: 9604818.
  279. Kemper MJ, Nolkemper D, Rogiers X, Timmermann K, Sturm E, Malago M, Broelsch CE, Burdelski M, Müller-Wiefel DE. Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results. J Nephrol. 1998 Mar-Apr;11 Suppl 1:46-8. Review. PubMed PMID: 9604810.
  280. Giafi CF, Rumsby G. Primary hyperoxaluria type 2: enzymology. J Nephrol. 1998 Mar-Apr;11 Suppl 1:29-31. PubMed PMID: 9604806.
  281. Petrarulo M, Vitale C, Facchini P, Marangella M. Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update. J Nephrol. 1998 Mar-Apr;11 Suppl 1:23-8. Review. PubMed PMID: 9604805.
  282. Ferrettini C, Pirulli D, Cosseddu D, Marangella M, Petrarulo M, Mazzola G, Vatta S, Amoroso A. Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1). J Nephrol. 1998 Mar-Apr; 11 Suppl 1:18-22. PubMed PMID: 9604804.
  283. von Schnakenburg C, Rumsby G. Identification of new mutations in primary hyperoxaluria type 1 (PH1). J Nephrol. 1998 Mar-Apr;11 Suppl 1:15-7. PubMed PMID: 9604803.
  284. Rumsby G. Experience in prenatal diagnosis of primary hyperoxaluria type 1. J Nephrol. 1998 Mar-Apr;11 Suppl 1:13-4. PubMed PMID: 9604802.
  285. Danpure CJ. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1. J Nephrol. 1998 Mar-Apr;11 Suppl 1:8-12. Review. PubMed PMID: 9604801.
  286. Müller T, Sikora P, Offner G, Hoyer PF, Brodehl J. Recurrence of renal disease after kidney transplantation in children: 24 years of experience in a single center. Clin Nephrol. 1998 Feb;49(2):82-90. PubMed PMID: 9524777.
  287. Giafi CF, Rumsby G. Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. Ann Clin Biochem. 1998 Jan; 35 ( Pt 1):104-9. Erratum in: Ann Clin Biochem 1998 Sep;35(Pt 5):688. PubMed PMID: 9463747.
  288. von Schnakenburg C, Hulton SA, Milford DV, Roper HP, Rumsby G. Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. Nephron. 1998;78(4):485-8. PubMed PMID: 9578076.
  289. Balla AA, Salah AM, Abdalmotaal E, Hoppe B, Bongartz D, Kessler T, Hesse A. N-acetyl-beta-D-glucosaminidase excretion in healthy children and in pediatric patients with urolithiasis. World J Urol. 1998;16(6):413-6. PubMed PMID: 9870291.
  290. Leiper JM, Danpure CJ. A unique molecular basis for enzyme mistargeting in primary hyperoxaluria type 1. Clin Chim Acta. 1997 Oct 9;266(1):39-50. PubMed PMID: 9435987.
  291. Cochat P, Jouvenet M, Pellet H, Feber J, Martin X, Divry P. [Hereditary diseases causing kidney calculi]. Rev Prat. 1997 Sep 15;47(14):1554-8. French. PubMed PMID: 9366114.
  292. Tarn AC, von Schnakenburg C, Rumsby G. Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). J Inherit Metab Dis. 1997 Sep; 20(5):689-96. PubMed PMID: 9323564.
  293. Rao M, Dakshinamurthy DS, Jacob CK. Renal transplantation in primary hyperoxaluria: an option in a developing country? Nephrol Dial Transplant. 1997 Sep;12(9):2041-3. PubMed PMID: 9306385.
  294. Rumsby G, Weir T, Samuell CT. A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1. Ann Clin Biochem. 1997 Jul;34 ( Pt 4):400-4. PubMed PMID: 9247673.
  295. von Schnakenburg C, Weir T, Rumsby G. Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. Ann Hum Genet. 1997 Jul;61(Pt 4):365-8. PubMed PMID: 9365788.
  296. Portillo FJ, Hoppe B, Al Turki M, Vorreuther R, Querfeld U, Engelmann UH. Primary hyperoxaluria type 1 and urolithiasis in children: Report of three cases. Ann Saudi Med. 1997 Jul;17(4):447-50. PubMed PMID: 17353599.
  297. Kemper MJ, Conrad S, Müller-Wiefel DE. Primary hyperoxaluria type 2. Eur J Pediatr. 1997 Jul;156(7):509-12. Review. PubMed PMID: 9243228.
  298. von Schnakenburg C, Rumsby G. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J Med Genet. 1997 Jun; 34(6):489-92. PubMed PMID: 9192270; PubMed Central PMCID: PMC1050973.
  299. Danpure CJ. Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease. Bioessays. 1997 Apr;19(4):317-26. Review. PubMed PMID: 9136629.
  300. Hoppe B, Danpure CJ, Rumsby G, Fryer P, Jennings PR, Blau N, Schubiger G, Neuhaus T, Leumann E. A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis. 1997 Jan;29(1):36-44. Review. PubMed PMID: 9002528.
  301. Danpure CJ, Jennings PR, Leiper JM, Lumb MJ, Oatey PB. Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1. Ann N Y Acad Sci. 1996 Dec 27;804:477-90. PubMed PMID: 8993566.
  302. Leiper JM, Oatey PB, Danpure CJ. Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. J Cell Biol. 1996 Nov;135(4):939-51. PubMed PMID: 8922378; PubMed Central PMCID: PMC2133393.
  303. Van Acker KJ, Eyskens FJ, Espeel MF, Wanders RJ, Dekker C, Kerckaert IO, Roels F. Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria. Kidney Int. 1996 Nov;50(5):1747-52. PubMed PMID: 8914045.
  304. Lhotta K, Rumsby G, Vogel W, Pernthaler H, Feichtinger H, König P. Primary hyperoxaluria type 1 caused by peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase. Nephrol Dial Transplant. 1996 Nov;11(11):2296-8. PubMed PMID: 8941594.
  305. Hoppe B, Graf D, Offner G, Latta K, Byrd DJ, Michalk D, Brodehl J. Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol. 1996 Aug;10(4):488-92. PubMed PMID: 8865249.
  306. Kemper MJ, Müller-Wiefel DE. Nephrocalcinosis in a patient with primary hyperoxaluria type 2. Pediatr Nephrol. 1996 Aug;10(4):442-4. PubMed PMID: 8865239.
  307. Latta A, Müller-Wiefel DE, Sturm E, Kemper M, Burdelski M, Broelsch CE. Transplantation procedures in primary hyperoxaluria type 1. Clin Nephrol. 1996 Jul;46(1):21-3. PubMed PMID: 8832145.
  308. Danpure CJ, Rumsby G. Strategies for the prenatal diagnosis of primary hyperoxaluria type 1. Prenat Diagn. 1996 Jul;16(7):587-98. Review. PubMed PMID: 8843467.
  309. Danpure CJ. What are the present possibilities for the prenatal diagnosis of primary hyperoxaluria? Pediatr Nephrol. 1996 Apr;10(2):190. Review. PubMed PMID: 8703709.
  310. Mahmoud A, Mattoo T, Cochat P. Acute anuric renal failure related to oxalosis in identical twin infants. Nephrol Dial Transplant. 1996 Mar;11(3):537-9. PubMed PMID: 8671829.
  311. Andy V, Horváth P, Wanders RJ. Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I. Clin Chim Acta. 1995 Dec 29;243(2): 105-14. PubMed PMID: 8747487.
  312. Motley A, Lumb MJ, Oatey PB, Jennings PR, De Zoysa PA, Wanders RJ, Tabak HF, Danpure CJ. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. J Cell Biol. 1995 Oct;131(1):95-109. PubMed PMID: 7559790; PubMed Central PMCID: PMC2120593.
  313. Marangella M, Vitale C, Petrarulo M, Tricerri A, Cerelli E, Cadario A, Barbos MP, Linari F. Bony content of oxalate in patients with primary hyperoxaluria or oxalosis-unrelated renal failure. Kidney Int. 1995 Jul;48(1):182-7. PubMed PMID: 7564076.
  314. Cochat P, Deloraine A, Olive F, Rolland MO, Gillet Y, Divry P, Schärer K. Primary hyperoxaluria type 1: the therapeutic dilemma. Adv Nephrol Necker Hosp. 1995;24:227-42. Review. PubMed PMID: 7572411.
  315. Latta K, Jamieson NV, Scheinman JI, Schärer K, Bensman A, Cochat P, Legendre C, Ruder H, de Pauw L, Toussaint C, et al. Selection of transplantation procedures and perioperative management in primary hyperoxaluria type 1. Nephrol Dial Transplant. 1995;10 Suppl 8:53-7. Review. PubMed PMID: 8592628.
  316. Haffner D, Cochat P, Otto G, Steffen H, Schärer K. When should isolated liver transplantation be performed in primary hyperoxaluria type 1? Follow-up report of two children. Nephrol Dial Transplant. 1995;10 Suppl 8:47-52. PubMed PMID: 8592627.
  317. Scheinman JI, Alexander M, Campbell ED, Chan JC, Latta K, Cochat P. Transplantation for primary hyperoxaluria in the USA. Nephrol Dial Transplant. 1995;10 Suppl 8:42-6. PubMed PMID: 8592626.
  318. Rumsby G, Mandel H, Avey C, Geraerts A. Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1. Nephrol Dial Transplant. 1995;10 Suppl 8:30-2. PubMed PMID: 8592623.
  319. Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique. Nephrol Dial Transplant. 1995;10 Suppl 8:3-7. PubMed PMID: 8592622.
  320. Danpure CJ. Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy. Nephrol Dial Transplant. 1995;10 Suppl 8:24-9. Review. PubMed PMID: 8592621.
  321. Leumann E, Hoppe B, Neuhaus T, Blau N. Efficacy of oral citrate administration in primary hyperoxaluria. Nephrol Dial Transplant. 1995;10 Suppl 8:14-6. PubMed PMID: 8592618.
  322. Marangella M, Vitale C, Petrarulo M, Linari F. The clinical significance of assessment of serum calcium oxalate saturation in the hyperoxaluria syndromes. Nephrol Dial Transplant. 1995;10 Suppl 8:11-3. PubMed PMID: 8592617.
  323. Hoyer PF, Latta K. The child with renal insufficiency and a 'white kidney' by ultrasound. Nephrol Dial Transplant. 1995;10(8):1470-1. PubMed PMID: 8538950.
  324. Marangella M, Petrarulo M, Cosseddu D, Vitale C, Cadario A, Barbos MP, Gurioli L, Linari F. Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or endstage renal failure. Nephrol Dial Transplant. 1995;10(8):1381-5. PubMed PMID: 8538930.
  325. Cochat P, Mahmoud A. Transplantation in primary hyperoxaluria type 1. Nephrol Dial Transplant. 1995;10(8):1293-6. PubMed PMID: 8538916.
  326. Petrarulo M, Cerelli E, Marangella M, Cosseddu D, Vitale C, Linari F. Assay of plasma oxalate with soluble oxalate oxidase. Clin Chem. 1994 Nov;40(11 Pt 1):2030-4. PubMed PMID: 7955374.
  327. Rumsby G, Uttley WS, Kirk JM. First trimester diagnosis of primary hyperoxaluria type I. Lancet. 1994 Oct 8;344(8928):1018. PubMed PMID: 7934395.
  328. Danpure CJ. Molecular and cell biology of primary hyperoxaluria type 1. Clin Investig. 1994 Sep;72(9):725-7. Review. PubMed PMID: 7849461.
  329. Horváth VA, Wanders RJ. Re-evaluation of conditions required for measurement of true alanine:glyoxylate aminotransferase activity in human liver: implications for the diagnosis of hyperoxaluria type I. Ann Clin Biochem. 1994 Jul;31 ( Pt 4):361-6. PubMed PMID: 7979103.
  330. Danpure CJ, Birdsey GM, Rumsby G, Lumb MJ, Purdue PE, Allsop J. Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene. Hum Genet. 1994 Jul;94(1):55-64. PubMed PMID: 8034295.
  331. Marangella M, Petrarulo M, Cosseddu D. End-stage renal failure in primary hyperoxaluria type 2. N Engl J Med. 1994 Jun 9;330(23):1690. PubMed PMID: 8177288.
  332. von Schnakenburg C, Byrd DJ, Latta K, Reusz GS, Graf D, Brodehl J. Determination of oxalate excretion in spot urines of healthy children by ion chromatography. Eur J Clin Chem Clin Biochem. 1994 Jan;32(1): 27-9. PubMed PMID: 8167190.
  333. Wanders RJ, Barth PG, Schutgens RB, Tager JM. Clinical and biochemical characteristics of peroxisomal disorders: an update. Eur J Pediatr. 1994;153(7 Suppl 1):S44-8. Review. PubMed PMID: 7957386.
  334. Danpure CJ, Fryer P, Griffiths S, Guttridge KM, Jennings PR, Allsop J, Moser AB, Naidu S, Moser HW, MacCollin M, et al. Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism. J Inherit Metab Dis. 1994;17(1):27-40. PubMed PMID: 8051936.
  335. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. J Inherit Metab Dis. 1994;17(4):487-99. Review. PubMed PMID: 7967498.
  336. Horváth VA, Wanders RJ. Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: glyoxylate aminotransferase. J Inherit Metab Dis. 1994;17(3):336-8. PubMed PMID: 7807946.
  337. Marangella M, Cosseddu D. [The pathogenetic basis of nephrolithiasis]. Minerva Pediatr. 1994 Jan-Feb;46(1-2):11-7. Review. Italian. PubMed PMID: 8196578.
  338. Cochat P, Rolland MO, Bozon D, Dumontel C, Divry P. [Molecular pathology of type 1 primary hyperoxaluria]. Nephrologie. 1994;15(6): 375-80. Review. French. PubMed PMID: 7862225.
  339. Petrarulo M, Pellegrino S, Marangella M, Cosseddu D, Linari F. High-performance liquid chromatographic microassay for Lglutamate: glyoxylate aminotransferase activity in human liver. Application in primary hyperoxaluria type 1. Clin Chim Acta. 1993 Sep 30;218(2):193-200. PubMed PMID: 8306443.
  340. Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, et al. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-tomitochondrion mistargeting and intraperoxisomal aggregation. Am J Hum Genet. 1993 Aug;53(2): 417-32. PubMed PMID: 8101040; PubMed Central PMCID: PMC1682352.
  341. Cochat P, Schärer K. Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? Pediatr Nephrol. 1993 Apr;7(2):212-8; discussion 218-9. Review. Erratum in: Pediatr Nephrol 1993 Jun;7(3):330. PubMed PMID: 8476723.
  342. Leumann E, Hoppe B, Neuhaus T. Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol. 1993 Apr; 7(2):207-11. Review. PubMed PMID: 8476722.
  343. Danpure CJ. Primary hyperoxaluria type 1 and peroxisometo- mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15. Review. PubMed PMID: 8507692.
  344. Marangella M, Cosseddu D, Petrarulo M, Vitale C, Linari F. Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria. Nephrol Dial Transplant. 1993;8(12):1333-7. PubMed PMID: 8159301.
  345. Calzavara P, Marangella M, Petrarulo M, Ballanti P, Bonucci E, Calconi G, Maresca MC, da Porto A, Vianello A. Long-term survival on renal replacement therapy for primary hyperoxaluria type I. Nephron. 1993;63(2):217-21. PubMed PMID: 8450916.
  346. Katz A, Freese D, Danpure CJ, Scheinman JI, Mauer SM. Success of kidney transplantation in oxalosis is unrelated to residual hepatic enzyme activity. Kidney Int. 1992 Dec;42(6):1408-11. PubMed PMID: 1474773.
  347. Petrarulo M, Marangella M, Cosseddu D, Linari F. Highperformance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. Clin Chim Acta. 1992 Oct 30;211(3): 143-53. PubMed PMID: 1458609.
  348. Marangella M, Petrarulo M, Vitale C, Cosseddu D, Linari F. Plasma and urine glycolate assays for differentiating the hyperoxaluria syndromes. J Urol. 1992 Sep;148(3 Pt 2):986-9. PubMed PMID: 1507356.
  349. Petrarulo M, Pellegrino S, Marangella M, Cosseddu D, Linari F. High-performance liquid chromatographic microassay for Lalanine: glyoxylate aminotransferase activity in human liver. Clin Chim Acta. 1992 Jun 30;208(3):183-92. PubMed PMID: 1499137.
  350. Marangella M, Petrarulo M, Cosseddu D, Vitale C, Linari F. Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis. 1992 Jun;19(6):546-53. PubMed PMID: 1595703.
  351. Purdue PE, Lumb MJ, Allsop J, Minatogawa Y, Danpure CJ. A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. Genomics. 1992 May;13(1):215-8. PubMed PMID: 1349575.
  352. Illum N, Lavard L, Danpure CJ, Horn T, AErenlund Jensen H, Skovby F. Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis. Child Nephrol Urol. 1992;12(4):225-7. PubMed PMID: 1473096.
  353. Marangella M, Petrarulo M, Mandolfo S, Vitale C, Cosseddu D, Linari F. Plasma profiles and dialysis kinetics of oxalate in patients receiving hemodialysis. Nephron. 1992;60(1):74-80. PubMed PMID: 1738418.
  354. Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10900-4. PubMed PMID: 1961759; PubMed Central PMCID: PMC53039.
  355. Marangella M, Petrarulo M, Vitale C, Daniele PG, Sammartano S, Cosseddu D, Linari F. Serum calcium oxalate saturation in patients on maintenance haemodialysis for primary hyperoxaluria or oxalosis-unrelated renal diseases. Clin Sci (Lond). 1991 Oct;81(4):483-90. PubMed PMID: 1657494.
  356. Purdue PE, Lumb MJ, Allsop J, Danpure CJ. An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. Hum Genet. 1991 Aug;87(4):394-6. PubMed PMID: 1879825.
  357. Marangella M, Petrarulo M, Vitale C, Cosseddu D, Linari F. [Kinetics of oxalate in hemodialysis]. Minerva Urol Nefrol. 1991 Jul-Sep; 43(3):165-9. Italian. PubMed PMID: 1817340.
  358. Cochat P. [Oxalosis (type 1 primary hyperoxaluria)]. Rev Med Suisse Romande. 1991 Jul;111(7):603-8. Review. French. PubMed PMID: 1866521.
  359. Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon-Benais C, Povey S, Danpure CJ. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics. 1991 May; 10(1):34-42. PubMed PMID: 2045108.
  360. Danpure CJ. Molecular and clinical heterogeneity in primary hyperoxaluria type 1. Am J Kidney Dis. 1991 Apr;17(4):366-9. PubMed PMID: 2008900.
  361. Danpure CJ, Jennings PR, Jansen JH. Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta. 1991 Feb 22;1096(2):134-8. PubMed PMID: 1672096.
  362. Watts RW, Morgan SH, Danpure CJ, Purkiss P, Calne RY, Rolles K, Baker LR, Mansell MA, Smith LH, Merion RM, et al. Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases. Am J Med. 1991 Feb;90(2):179-88. PubMed PMID: 1996585.
  363. Petrarulo M, Marangella M, Linari F. High-performance liquid chromatographic determination of plasma glycolic acid in healthy subjects and in cases of hyperoxaluria syndromes. Clin Chim Acta. 1991 Jan 31;196(1): 17-26. PubMed PMID: 2022057.
  364. Marangella M, Petrarulo M, Bianco O, Vitale C, Finocchiaro P, Linari F. Glycolate determination detects type I primary hyperoxaluria in dialysis patients. Kidney Int. 1991 Jan;39(1):149-54. PubMed PMID: 2002628.
  365. Watts RW, Danpure CJ, De Pauw L, Toussaint. Combined liver-kidney and isolated liver transplantations for primary hyperoxaluria type 1: the European experience. The European Study Group on Transplantation in Hyperoxaluria Type 1. Nephrol Dial Transplant. 1991;6(7):502-11. PubMed PMID: 1922912.
  366. De Pauw L, Watts RW, Danpure CJ, Toussaint C. [Which transplantation strategies in primary hyperoxaluria type 1?]. Nephrologie. 1991;12(3):147-9. French. PubMed PMID: 1922655.
  367. Purdue PE, Takada Y, Danpure CJ. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/ glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol. 1990 Dec;111(6 Pt 1):2341-51. PubMed PMID: 1703535; PubMed Central PMCID: PMC2116406.
  368. Ruder H, Otto G, Schutgens RB, Querfeld U, Wanders RJ, Herzog KH, Wölfel P, Pomer S, Schärer K, Rose GA. Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1. Eur J Pediatr. 1990 Nov;150(1):56-8. PubMed PMID: 2079078.
  369. de Pauw L, Gelin M, Danpure CJ, Vereerstraeten P, Adler M, Abramowicz D, Toussaint C. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Transplantation. 1990 Nov;50(5):886-7. PubMed PMID: 2238068.
  370. Petrarulo M, Bianco O, Cosseddu D, Marangella M, Pellegrino S, Linari F. Improved high-performance liquid chromatographic determination of urinary glycolic acid. J Chromatogr. 1990 Oct 26;532(1):130-4. PubMed PMID: 2079527.
  371. Wanders RJ, Ruiter J, van Roermund CW, Schutgens RB, Ofman R, Jurriaans S, Tager JM. Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method. Clin Chim Acta. 1990 Aug 15;189(2):139-44. PubMed PMID: 2397596.
  372. Petrarulo M, Bianco O, Marangella M, Pellegrino S, Linari F, Mentasti E. Ion chromatographic determination of plasma oxalate in healthy subjects, in patients with chronic renal failure and in cases of hyperoxaluric syndromes. J Chromatogr. 1990 Jul 6;511:223-31. PubMed PMID: 2211912.
  373. Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ. Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J. 1990 Jun 1;268(2):517-20. PubMed PMID: 2363689; PubMed Central PMCID: PMC1131464.
  374. Reusz GS, Latta K, Hoyer PF, Byrd DJ, Ehrich JH, Brodehl J. Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets. Lancet. 1990 May 26;335(8700): 1240-3. PubMed PMID: 1971321.
  375. Latta K, Brodehl J. Primary hyperoxaluria type I. Eur J Pediatr. 1990 May;149(8):518-22. Review. PubMed PMID: 2189732.
  376. Canavese C, Salomone M, Massara C, Portigliatti Barbos M, Cadario A, Pavan I, Marangella M, Petrarulo M, Rotolo U. Primary oxalosis mimicking hyperparathyroidism diagnosed after long-term hemodialysis. Am J Nephrol. 1990;10(4):344-9. PubMed PMID: 2240064.
  377. Morgan SH, Danpure CJ, Bending MR, Eisinger AJ. Exclusion of primary hyperoxaluria type I (PHI) in end-stage renal failure by enzymatic analysis of a percutaneous hepatic biopsy. Nephron. 1990;55(3):336-7. PubMed PMID: 2370935.
  378. Cavallotti GP, Genovese MG, Carnazza G, Bocchini R, Marangella MM. [Radiological characteristics of primary hyperoxaluria with oxalosis]. Minerva Med. 1989 Oct;80(10):1125-8. Italian. PubMed PMID: 2812471.
  379. McKerrell RE, Blakemore WF, Heath MF, Plumb J, Bennett MJ, Pollitt RJ, Danpure CJ. Primary hyperoxaluria (L-glyceric aciduria) in the cat: a newly recognised inherited disease. Vet Rec. 1989 Jul 8;125(2): 31-4. PubMed PMID: 2773220.
  380. Cochat P, Faure JL, Divry P, Danpure CJ, Descos B, Wright C, Takvorian P, Floret D. Liver transplantation in primary hyperoxaluria type 1. Lancet. 1989 May 20;1(8647):1142-3. PubMed PMID: 2566086.
  381. Marangella M, Bianco O, Martini C, Petrarulo M, Vitale C, Linari F. Effect of animal and vegetable protein intake on oxalate excretion in idiopathic calcium stone disease. Br J Urol. 1989 Apr;63(4):348-51. PubMed PMID: 2713614.
  382. Danpure CJ, Cooper PJ, Wise PJ, Jennings PR. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol. 1989 Apr;108(4):1345-52. PubMed PMID: 2925788; PubMed Central PMCID: PMC2115519.
  383. Danpure CJ, Jennings PR, Penketh RJ, Wise PJ, Cooper PJ, Rodeck CH. Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1. Prenat Diagn. 1989 Apr;9(4):271-81. PubMed PMID: 2717533.
  384. Petrarulo M, Pellegrino S, Bianco O, Marangella M, Linari F, Mentasti E. Derivatization and high-performance liquid chromatographic determination of urinary glycolic acid. J Chromatogr. 1989 Mar 10;465(1): 87-93. Erratum in: J Chromatogr 1989 Jun 23;472(2):450. PubMed PMID: 2708493.
  385. Danpure CJ, Jennings PR, Mistry J, Chalmers RA, McKerrell RE, Blakemore WF, Heath MF. Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease. J Inherit Metab Dis. 1989;12(4):403-14. PubMed PMID: 2516173.
  386. Danpure CJ, Cooper PJ, Jennings PR, Wise PJ, Penketh RJ, Rodeck CH. Enzymatic prenatal diagnosis of primary hyperoxaluria type 1: potential and limitations. J Inherit Metab Dis. 1989;12 Suppl 2:286-8. PubMed PMID: 2512427.
  387. Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H. Prenatal and perinatal diagnosis of peroxisomal disorders. J Inherit Metab Dis. 1989;12 Suppl 1:118-34. Review. PubMed PMID: 2509803.
  388. Danpure CJ. Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type 1. J Inherit Metab Dis. 1989;12(2):210-24. Review. PubMed PMID: 2502679.
  389. Murty ML, Garg I, Date A, Jacob CK, Kirubakaran MG, Shastry JC. Renal histology for the diagnosis of primary hyperoxaluria in patients with end-stage renal disease. Nephron. 1989;53(1):81-2. PubMed PMID: 2674746.
  390. Petrarulo M, Pellegrino S, Bianco O, Marangella M, Linari F, Metasti E. High-performance liquid chromatographic determination of glyoxylic acid in urine. J Chromatogr. 1988 Nov 18;432:37-46. PubMed PMID: 3220907.
  391. Cooper PJ, Danpure CJ, Wise PJ, Guttridge KM. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. J Histochem Cytochem. 1988 Oct;36(10):1285-94. PubMed PMID: 3418107.
  392. Danpure CJ, Jennings PR. Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1. Clin Sci (Lond). 1988 Sep; 75(3):315-22. PubMed PMID: 3416563.
  393. Danpure CJ, Jennings PR, Penketh RJ, Wise PJ, Rodeck CH. Prenatal exclusion of primary hyperoxaluria type 1. Lancet. 1988 Feb 13;1(8581): 367. PubMed PMID: 2893183.
  394. Wanders RJ, van Roermund CW, Jurriaans S, Schutgens RB, Tager JM, van den Bosch H, Wolff ED, Przyrembel H, Berger R, Schaaphok FG, et al. Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness. J Inherit Metab Dis. 1988;11 Suppl 2:208-11. PubMed PMID: 3141704.
  395. Danpure CJ, Jennings PR. Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: glyoxylate aminotransferase deficiency). J Inherit Metab Dis. 1988;11 Suppl 2:205-7. PubMed PMID: 3141703.
  396. Thompson GN, Purkiss P, Danpure CJ. The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: the relationship between glycine production and oxalate overproduction. J Inherit Metab Dis. 1988;11 Suppl 2:212-4. PubMed PMID: 2903269.
  397. Allsop J, Jennings PR, Danpure CJ. A new micro-assay for human liver alanine: glyoxylate aminotransferase. Clin Chim Acta. 1987 Dec;170(2-3):187-93. PubMed PMID: 3436053.
  398. Wise PJ, Danpure CJ, Jennings PR. Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1. FEBS Lett. 1987 Sep 28;222(1):17-20. PubMed PMID: 2443389.
  399. Watts RW, Calne RY, Rolles K, Danpure CJ, Morgan SH, Mansell MA, Williams R, Purkiss P. Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation. Lancet. 1987 Aug 29;2(8557):474-5. PubMed PMID: 2887776.
  400. Wanders RJ, van Roermund CW, Westra R, Schutgens RB, van der Ende MA, Tager JM, Monnens LA, Baadenhuysen H, Govaerts L, Przyrembel H, et al. Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome. Clin Chim Acta. 1987 Jun 15;165(2-3):311-9. PubMed PMID: 3652453.
  401. Danpure CJ, Jennings PR, Watts RW. Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. Lancet. 1987 Feb 7;1(8528):289-91. PubMed PMID: 2880111.
  402. Schutgens RB, Wanders RJ, Nijenhuis A, van den Hoek CM, Heymans HS, Schrakamp G, Bleeker-Wagemakers EM, Delleman JW, Schram AW, Tager JM, et al. Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies. Enzyme. 1987;38(1-4):161-76. PubMed PMID: 3440444.
  403. Iancu TC, Danpure CJ. Primary hyperoxaluria type I: ultrastructural observations in liver biopsies. J Inherit Metab Dis. 1987;10(4):330-8. PubMed PMID: 3126353.
  404. Danpure CJ. Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1. Lancet. 1986 Nov 15;2(8516):1168. PubMed PMID: 2877320.
  405. Danpure CJ, Jennings PR. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett. 1986 May 26;201(1):20-4. PubMed PMID: 3709805.
  406. Danpure CJ, Purkiss P, Jennings PR, Watts RW. Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I. Clin Sci (Lond). 1986 May;70(5):417-25. PubMed PMID: 3009079.
  407. Marangella M, Daniele PG, Ronzani M, Sonego S, Linari F. Urine saturation with calcium salts in normal subjects and idiopathic calcium stone-formers estimated by an improved computer model system. Urol Res. 1985;13(4):189-93. PubMed PMID: 4049606.
  408. Böhles H, Brandl U, Schott G, Stehr K. [Clinical and chemical factors in kidney calculus formation in childhood. An analysis of 40 patients]. Monatsschr Kinderheilkd. 1984 Mar;132(3):158-62. German. PubMed PMID: 6727888.
  409. Marangella M, Fruttero B, Bruno M, Linari F. Hyperoxaluria in idiopathic calcium stone disease: further evidence of intestinal hyperabsorption of oxalate. Clin Sci (Lond). 1982 Oct;63(4):381-5. PubMed PMID: 7105633.
  410. Marangella M, Maddalena D, Fruttero B, Bruno M, Malfi B, Linari F. [Hyperoxaluria in renal calculosis and in Crohn's disease]. Minerva Nefrol. 1979 Oct-Dec;26(4):543-8. Italian. PubMed PMID: 542224.