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

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.

Expert reviews in molecular medicine - 9 Jan 2004

Danpure Christopher J, Rumsby Gill

Abstract excerpt

The primary hyperoxalurias type 1 (PH1) and type 2 (PH2) are autosomal recessive calcium oxalate kidney stone diseases caused by deficiencies of the metabolic enzymes alanine:glyoxylate aminotransferase (AGT) and glyoxylate/hydroxypyruvate reductase (GR/HPR), respectively. Over 50 mutations have been identified in the AGXT gene (encoding AGT) in PH1, associated with a wide variety of effects on AGT, including...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Oxidoreductases
Share to Cell Line
Share to Genotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hyperoxaluria, Primary

Share to Models, Molecular

Share to Polymorphism, Genetic

Share to Protein Conformation

Share to Transaminases

Source

Identifiers

PMID: 14987413
DOI: 10.1017/S1462399404007203

Genes

AGT
HPR
AGXT
GRHPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.PMID 14987413Read ↗

Molecular Aetiology of Primary Hyperoxaluria Type 1Semantic proximity Read ↗

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.Semantic proximity Read ↗

Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.Semantic proximity Read ↗

[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].Semantic proximity Read ↗

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

Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.Semantic proximity Read ↗

Molecular insights into primary hyperoxaluria Type I pathogenesisSemantic proximity Read ↗

[Molecular pathology of type 1 primary hyperoxaluria].Semantic proximity Read ↗

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.Semantic proximity Read ↗

Primary hyperoxalurias: diagnosis and treatment.Semantic proximity Read ↗

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Semantic proximity Read ↗

[Primary hyperoxaluria].Semantic proximity Read ↗

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