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Article

Primary hyperoxaluria type 2 in children.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2002

Johnson Sally A, Rumsby Gill, Cregeen David, Hulton Sally-Anne

Abstract excerpt

The primary hyperoxalurias (PH1 and PH2) are rare defects of oxalate overproduction. There are only 24 reported cases of PH2, which is characterized by raised urine oxalate and L-glycerate. We describe 13 previously unreported children with PH2, representing the largest single-centre cohort in the world. DNA samples were tested for a common mutation and four other documented mutations in the gene encoding the...

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Identifiers

PMID: 12185464
DOI: 10.1007/s00467-002-0858-6

Genes

GRHPR

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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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