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Article

Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

American journal of human genetics - 10 Sept 2010

Belostotsky Ruth, Seboun Eric, Idelson Gregory H, Milliner Dawn S, Becker-Cohen Rachel, Rinat Choni, Monico Carla G, Feinstein Sofia, Ben-Shalom Efrat, Magen Daniella, Weissman Irith, Charon Celine, Frishberg Yaacov

Abstract excerpt

Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease...

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Source

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Identifiers

PMID: 20797690
DOI: 10.1016/j.ajhg.2010.07.023
PMCID: PMC2933339

Genes

AGT
GRHPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20797690-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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