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Article

Clinical and molecular characterization of primary hyperoxaluria in Egypt.

Scientific reports - 23 Sept 2022

Soliman Neveen A, Elmonem Mohamed A, Abdelrahman Safaa M, Nabhan Marwa M, Fahmy Yosra A, Cogal Andrea, Harris Peter C, Milliner Dawn S

Abstract excerpt

Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes (AGXT, GRHPR or HOGA1). The study aimed at characterizing the clinical phenotypes as well as the genotypic spectrum of PH in Egypt. We screened 25 Egyptian patients suspected of PH for the three responsible genes by Sanger sequencing. We diagnosed 20 patients from 18 unrelated...

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Identifiers

PMID: 36151119
DOI: 10.1038/s41598-022-17980-9
PMCID: PMC9508166

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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.

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