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Article

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

BMC nephrology - 17 Jun 2014

Li Guo-min, Xu Hong, Shen Qian, Gong Yi-nv, Fang Xiao-yan, Sun Li, Liu Hai-mei, An Yu

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. METHODS: Two unr...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24934730
DOI: 10.1186/1471-2369-15-92
PMCID: PMC4080780

Genes

AGXT
AGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24934730-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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