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Article

Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

Prenatal diagnosis - 1 Jul 1996

Danpure C J, Rumsby G

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a potentially lethal autosomal recessive disorder of glyoxylate metabolism caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Over the past 13 years, various strategies have been adopted for its prenatal diagnosis, including (1) glyoxylate metabolite analysis of amniotic fluid in the second trimester; (2) AGT enzyme...

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

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Source

Identifiers

PMID: 8843467
DOI: 10.1002/(SICI)1097-0223(199607)16:7<587::AID-PD925>3.0.CO;2-9

Genes

AGT

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

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Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.PMID 8843467Read ↗

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Molecular insights into primary hyperoxaluria Type I pathogenesisSemantic proximity Read ↗

Molecular Aetiology of Primary Hyperoxaluria Type 1Semantic proximity Read ↗

Primary hyperoxalurias: diagnosis and treatment.Semantic proximity Read ↗

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Semantic proximity Read ↗

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

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.Semantic proximity Read ↗

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.Semantic proximity Read ↗

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).Semantic proximity Read ↗

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.Semantic proximity Read ↗

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