The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II
about
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2Testing the role of predicted gene knockouts in human anthropometric trait variationGlyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.Current approaches to the management of primary hyperoxaluriaCharacterization of the kidney transcriptome of the South American olive mouse Abrothrix olivacea.Exploring the genetic basis of early-onset chronic kidney disease.Glyoxalate reductase/hydroxypyruvate reductase interacts with the sodium-dependent vitamin C transporter-1 to regulate cellular vitamin C homeostasisPerformance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencingPrimary hyperoxaluria.Primary 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.Hydroxyproline metabolism in mouse models of primary hyperoxaluria.Surgical management of stone disease in patients with primary hyperoxaluria.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3Aldehyde sources, metabolism, molecular toxicity mechanisms, and possible effects on human health.Hydroxyproline ingestion and urinary oxalate and glycolate excretion.Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategiesGenetic basis of renal cellular dysfunction and the formation of kidney stones.Cardiac abnormalities in primary hyperoxaluria.Influence of nutrition on feline calcium oxalate urolithiasis with emphasis on endogenous oxalate synthesis.Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.Primary hyperoxalurias: diagnosis and treatment.In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).Autopsy findings of a case with oxalosis.Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria.Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.Promoter rearrangements cause species-specific hepatic regulation of the glyoxylate reductase/hydroxypyruvate reductase gene by the peroxisome proliferator-activated receptor alpha.Primary hyperoxaluria--the German experience.HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.Folding Defects Leading to Primary Hyperoxaluria.glyoxylate + NADPH + H+ => glycolate + NADP+Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria.Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.Primary hyperoxaluria in Coton de Tulear.
P2860
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P2860
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@ast
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en-gb
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@nl
type
label
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@ast
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en-gb
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@nl
prefLabel
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@ast
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en-gb
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@nl
P2093
P921
P3181
P356
P1476
The gene encoding hydroxypyruv ...... primary hyperoxaluria type II
@en
P2093
P304
P3181
P356
10.1093/HMG/8.11.2063
P407
P577
1999-10-01T00:00:00Z