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Article

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Kidney international - 1 Sept 2004

Rumsby Gill, Williams Emma, Coulter-Mackie Marion

Abstract excerpt

BACKGROUND: A definitive diagnosis of primary hyperoxaluria type 1 (PH1) and primary hyperoxaluria type 2 (PH2) requires the measurement of alanine:glyoxylate aminotransferase (AGT) and glyoxylate reductase (GR) activities, respectively, in a liver biopsy. We have evaluated a molecular genetic approach for the diagnosis of these autosomal-recessive diseases. METHODS: Polymerase chain reaction (PCR) was used to...

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Source

Identifiers

PMID: 15327387
DOI: 10.1111/j.1523-1755.2004.00842.x

Genes

AGT
AGXT
GRHPR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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