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Article

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.

Journal of inherited metabolic disease - 1 Jan 1994

Danpure C J, Jennings P R, Fryer P, Purdue P E, Allsop J

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT). The disease is notable for its extensive heterogeneity at the clinical, biochemical, enzymic and molecular genetic level...

Topics

Amino Acid Sequence
Genotype
Humans
Hyperoxaluria, Primary
Liver
Microbodies
Molecular Sequence Data
Mutation
Phenotype
Transaminases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7967498
DOI: 10.1007/BF00711363

Genes

AGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7967498-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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