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Article

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.

BMC nephrology - 2 Oct 2017

Kanoun Houda, Jarraya Faiçal, Maalej Bayen, Lahiani Amina, Mahfoudh Hichem, Makni Fatma, Hachicha Jamil, Fakhfakh Faiza

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent renal failure if treatment is not initiated promptly. Mutations in the AGXT gene which encodes the hepatic...

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Source

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Identifiers

PMID: 28969594
DOI: 10.1186/s12882-017-0719-y
PMCID: PMC5625645

Genes

AGXT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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