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Article

Modifiers of Ovarian Function in Girls and Women With Classic Galactosemia

21 May 2013

Abstract excerpt

CONTEXT: Classic galactosemia is a potentially lethal genetic disorder resulting from profound impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women with classic galactosemia experience primary or premature ovarian insufficiency despite neonatal diagnosis and rigorous lifelong dietary galactose restriction. OBJECTIVE: The goal of this study was to test the relationship between...

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PMID: 23690308
DOI: 10.1210/jc.2013-1374

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