×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
Recessive GRHPR mutations cause primary hyperoxaluria type 2 (PH2 ).
30889567
2019
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
BEFREE
Although requiring confirmation in additional cases, the normalization of plasma oxalate, urine oxalate, and urine glycerate levels observed in this patient within a month of the transplant that remain reduced at the most recent follow-up at 13 months suggests that correction of the GRHPR deficiency in PH2 can be achieved by liver transplantation.
28681512
2018
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
BEFREE
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
28569194
2017
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
25629080
2015
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
25644115
2015
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
24116921
2014
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
24116921
2014
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association.
24116921
2014
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
19296982
2009
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
The case: A boy with recurrent stones.
18560364
2008
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
17510093
2007
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
BEFREE
Primary hyperoxaluria type 2 (PH2 ) is a rare monogenic disorder characterized by an elevated urinary excretion of oxalate.
16597637
2006
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.
16306119
2005
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
15327387
2004
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
14635115
2003
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
14635115
2003
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
Molecular analysis of the glyoxylate reductase (GRHPR ) gene and description of mutations underlying primary hyperoxaluria type 2 .
14635115
2003
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Primary hyperoxaluria type 2 in children.
12185464
2002
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?
11477177
2001
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.
11728965
2001
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
These results further confirm that mutations in the GRHPR gene form the genetic basis of PH2 .
11030416
2000
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
11030416
2000
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
10484776
1999