Modifiers of Ovarian Function in Girls and Women With Classic Galactosemia

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 rigoro...

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Autores principales: Spencer, Jessica B., Badik, Jennifer R., Ryan, Emily L., Gleason, Tyler J., Broadaway, K. Alaine, Epstein, Michael P., Fridovich-Keil, Judith L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2013
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3701263/
https://ncbi.nlm.nih.gov/pubmed/23690308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-1374
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