Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
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Mutations in DHDPSL are responsible for primary hyperoxaluria type IIIA novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluriaNephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria.Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencingPrimary and secondary hyperoxaluria: Understanding the enigmaA mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II.A rare case of hyperoxaluria presenting with acute liver injury and stone-free kidney injury.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.The primary hyperoxalurias: an algorithm for diagnosis.Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure.New insights into the mechanism of substrates trafficking in Glyoxylate/Hydroxypyruvate reductases.Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stonesGenetic determinants of urolithiasis.An update on primary hyperoxaluria.Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.Primary hyperoxalurias: diagnosis and treatment.Primary hyperoxaluria: spectrum of clinical and imaging findings.Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.Folding Defects Leading to Primary Hyperoxaluria.Digital necrosis from dandelion tea.Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report.Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2.Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options.The genetic framework for development of nephrolithiasis.
P2860
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P2860
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@ast
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@en
Molecular analysis of the glyoxylate reductase
@nl
type
label
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@ast
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@en
Molecular analysis of the glyoxylate reductase
@nl
prefLabel
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@ast
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@en
Molecular analysis of the glyoxylate reductase
@nl
P2093
P356
P1433
P1476
Molecular analysis of the glyo ...... primary hyperoxaluria type 2.
@en
P2093
David P Cregeen
Emma L Williams
Gill Rumsby
Sally Hulton
P356
10.1002/HUMU.9200
P577
2003-12-01T00:00:00Z