Article
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Kidney international - 1 Mar 2010
Harambat Jérôme, Fargue Sonia, Acquaviva Cécile, Gagnadoux Marie-France, Janssen Françoise, Liutkus Aurélia, Mourani Chebl, Macher Marie-Alice, Abramowicz Daniel, Legendre Christophe, Durrbach Antoine, Tsimaratos Michel, Nivet Hubert, Girardin Eric, Schott Anne-Marie, Rolland Marie-Odile, Cochat Pierre
Abstract excerpt
We sought to ascertain the long-term outcome and genotype-phenotype correlations available for primary hyperoxaluria type 1 in a large retrospective cohort study. We examined the clinical history of 155 patients (129 families primarily from Western Europe, North Africa, or the Middle East) as well as the enzymatic or genetic diagnosis. The median age at first symptom was 4 years, and at diagnosis 7.7 years, at...
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