Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

1 Oct 1999

Abstract excerpt

Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. The disease is characterized by an elevated urinary excretion of oxalate and L-glycerate. The increased oxalate excretion can cause nephrolithiasis...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomedical Research and Pathophysiology
Share to Kidney Stones and Urolithiasis Treatments
Share to Porphyrin Metabolism and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 10484776
DOI: 10.1093/hmg/8.11.2063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type IIPMID 10484776Read ↗

Genetic basis of primary hyperoxaluria type II.Semantic proximity Read ↗

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.Semantic proximity Read ↗

Primary hyperoxaluria type 2 in children.Semantic proximity Read ↗

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type ISemantic proximity Read ↗

Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.Semantic proximity Read ↗

Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.Semantic proximity Read ↗

Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.Semantic proximity Read ↗

A molecular journey on the pathogenesis of primary hyperoxaluria.Semantic proximity Read ↗

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.Semantic proximity Read ↗

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary HyperoxaluriaSemantic proximity Read ↗

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.Semantic proximity Read ↗

Primary hyperoxalurias: disorders of glyoxylate detoxification.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.