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Article

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Kidney international - 1 Dec 2014

Mandrile Giorgia, van Woerden Christiaan S, Berchialla Paola, Beck Bodo B, Acquaviva Bourdain Cécile, Hulton Sally-Anne, Rumsby Gill

Abstract excerpt

Primary hyperoxaluria type 1 displays a heterogeneous phenotype, likely to be affected by genetic and non-genetic factors, including timeliness of diagnosis and quality of care. As previous genotype-phenotype studies were hampered by limited patient numbers the European OxalEurope Consortium was constituted. This preliminary retrospective report is based on 526 patients of which 410 have the AGXT genotype...

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Source

Identifiers

PMID: 24988064
DOI: 10.1038/ki.2014.222

Genes

AGXT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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