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Results: 1 to 20 of 47

Select item 235076541.

Long-term renal allograft survival after posttransplantation diagnosis of primary hyperoxaluria.

Roberts V, Rajakumar SV, Crikis S, Dwyer KM, Hill PA, Goodman DJ.

Transplantation. 2013 Mar 27;95(6):e35-6. doi: 10.1097/TP.0b013e3182827a22. No abstract available.

PMID:: 23507654; [PubMed - indexed for MEDLINE]

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Select item 232295452.

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.

Fargue S, Lewin J, Rumsby G, Danpure CJ.

J Biol Chem. 2013 Jan 25;288(4):2475-84. doi: 10.1074/jbc.M112.432617. Epub 2012 Dec 10.

PMID:: 23229545; [PubMed - indexed for MEDLINE]

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Select item 230076723.

Crystalline retinopathy from primary hyperoxaluria.

Yuan A, Ehlers JP.

Retina. 2012 Oct;32(9):1994-5. No abstract available.

PMID:: 23007672; [PubMed - indexed for MEDLINE]

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Select item 229533304.

Bone marrow oxalosis.

Bakshi NA, Al-Zahrani H.

Blood. 2012 Jul 5;120(1):8. No abstract available.

PMID:: 22953330; [PubMed - indexed for MEDLINE]

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Select item 228516255.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.

Hoppe B.

Nephrol Dial Transplant. 2012 Aug;27(8):3024-6. doi: 10.1093/ndt/gfs308. No abstract available.

PMID:: 22851625; [PubMed - indexed for MEDLINE]

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Select item 228441066.

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.

van der Hoeven SM, van Woerden CS, Groothoff JW.

Nephrol Dial Transplant. 2012 Oct;27(10):3855-62. doi: 10.1093/ndt/gfs320. Epub 2012 Jul 27.

PMID:: 22844106; [PubMed - indexed for MEDLINE]

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Select item 228216807.

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.

Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V.

Am J Med Genet A. 2012 Sep;158A(9):2124-30. doi: 10.1002/ajmg.a.35495. Epub 2012 Jul 20.

PMID:: 22821680; [PubMed - indexed for MEDLINE]

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Select item 227840098.

Aggressive primary hyperoxaluria involving the liver in an adult.

Patra S, Vij M, Varghese JS, Rela M.

Liver Int. 2012 Nov;32(10):1564. doi: 10.1111/j.1478-3231.2012.02845.x. Epub 2012 Jul 12. No abstract available.

PMID:: 22784009; [PubMed - indexed for MEDLINE]

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Select item 227718919.

4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.

Riedel TJ, Knight J, Murray MS, Milliner DS, Holmes RP, Lowther WT.

Biochim Biophys Acta. 2012 Oct;1822(10):1544-52. doi: 10.1016/j.bbadis.2012.06.014. Epub 2012 Jul 5.

PMID:: 22771891; [PubMed - indexed for MEDLINE]

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Select item 2272939210.

Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism.

Belostotsky R, Pitt JJ, Frishberg Y.

J Mol Med (Berl). 2012 Dec;90(12):1497-504. doi: 10.1007/s00109-012-0930-z. Epub 2012 Jun 24.

PMID:: 22729392; [PubMed - indexed for MEDLINE]

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Select item 2268874611.

An update on primary hyperoxaluria.

Hoppe B.

Nat Rev Nephrol. 2012 Jun 12;8(8):467-75. doi: 10.1038/nrneph.2012.113. Review.

PMID:: 22688746; [PubMed - indexed for MEDLINE]

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Select item 2254775012.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

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.

Nephrol Dial Transplant. 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078.

PMID:: 22547750; [PubMed - indexed for MEDLINE]

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Select item 2252974513.

Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.

Fodor K, Wolf J, Erdmann R, Schliebs W, Wilmanns M.

PLoS Biol. 2012;10(4):e1001309. doi: 10.1371/journal.pbio.1001309. Epub 2012 Apr 17.

PMID:: 22529745; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2250976714.

Primary hyperoxaluria presenting with early renal allograft dysfunction.

Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B.

Nephrology (Carlton). 2012 May;17(4):431. doi: 10.1111/j.1440-1797.2011.01534.x. No abstract available.

PMID:: 22509767; [PubMed - indexed for MEDLINE]

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Select item 2244603215.

Primary hyperoxalurias: disorders of glyoxylate detoxification.

Salido E, Pey AL, Rodriguez R, Lorenzo V.

Biochim Biophys Acta. 2012 Sep;1822(9):1453-64. doi: 10.1016/j.bbadis.2012.03.004. Epub 2012 Mar 14. Review.

PMID:: 22446032; [PubMed - indexed for MEDLINE]

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Select item 2239114016.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

Williams EL, Bockenhauer D, van't Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G.

Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5.

PMID:: 22391140; [PubMed - indexed for MEDLINE]

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Select item 2238224617.

Primary hyperoxaluria type 1 in Tunisian children.

Gargah T, Khelil N, Youssef G, Karoui W, Lakhoua MR, Abdelmoula J.

Saudi J Kidney Dis Transpl. 2012 Mar;23(2):385-90.

PMID:: 22382246; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2228765818.

Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?

Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B.

Nephrol Dial Transplant. 2012 Jul;27(7):2984-9. doi: 10.1093/ndt/gfr776. Epub 2012 Jan 28.

PMID:: 22287658; [PubMed - indexed for MEDLINE]

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Select item 2222360819.

Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy.

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.

Clin J Am Soc Nephrol. 2012 Mar;7(3):458-65. doi: 10.2215/CJN.07430711. Epub 2012 Jan 5.

PMID:: 22223608; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2221043020.

Transplantation in adults with primary hyperoxaluria: single unit experience and treatment algorithm.

Malde DJ, Pararajasingam R, Tavakoli A, Campbell B, Riad H, Parrot N, Prasad KR, Augustine T.

Ann Transplant. 2011 Oct-Dec;16(4):111-7.

PMID:: 22210430; [PubMed - indexed for MEDLINE]

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Supplemental Content

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8 free full-text articles in PubMed Central

Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. [PLoS Biol. 2012]
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.
Fodor K, Wolf J, Erdmann R, Schliebs W, Wilmanns M. PLoS Biol. 2012; 10(4):e1001309. Epub 2012 Apr 17.
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. [Clin J Am Soc Nephrol. 2012]
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy.
Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P, et al. Clin J Am Soc Nephrol. 2012 Mar; 7(3):458-65. Epub 2012 Jan 5.
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]
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.
Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Mol Genet Metab. 2012 Jan; 105(1):132-40. Epub 2011 Oct 5.

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