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Article

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

American journal of nephrology - 1 Jan 2000

Frishberg Yaacov, Rinat Choni, Shalata Adel, Khatib Ihab, Feinstein Sofia, Becker-Cohen Rachel, Weismann Irit, Wanders Ronald J A, Rumsby Gill, Roels Frank, Mandel Hanna

Abstract excerpt

BACKGROUND/AIMS: Primary hyperoxaluria type 1 (PH1) is caused by the deficiency of the liver enzyme alanine:glyoxylate aminotransferase which results in increased synthesis and excretion of oxalate. The clinical manifestations of PH1 are heterogeneous with respect to the age of onset and rate of progression. The aim of this study was to investigate possible relationships between a given genotype, the biochemical...

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Identifiers

PMID: 15961946
DOI: 10.1159/000086357

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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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