Detalhe da pesquisa
1.
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Am J Hum Genet
; 87(3): 392-9, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797690
2.
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
Am J Med Genet A
; 158A(9): 2124-30, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821680
3.
Cardiac abnormalities in primary hyperoxaluria.
Circ J
; 74(11): 2403-9, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20921818
4.
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Hum Mutat
; 30(6): 910-7, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19479957
5.
Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.
Am J Kidney Dis
; 52(6): 1096-103, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18951670
6.
Genetic determinants of urolithiasis.
Nat Rev Nephrol
; 8(3): 151-62, 2011 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22183508
7.
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Clin J Am Soc Nephrol
; 6(9): 2289-95, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21896830
8.
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
J Am Soc Nephrol
; 18(6): 1905-14, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17460142
9.
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.
Nephrol Dial Transplant
; 21(8): 2292-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16597637
10.
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Am J Nephrol
; 25(2): 183-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15849466
11.
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele.
Kidney Int
; 67(5): 1704-9, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15840016
12.
International registry for primary hyperoxaluria.
Am J Nephrol
; 25(3): 290-6, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15961949
13.
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.
Kidney Int
; 62(2): 392-400, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12110000