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Maternal Glutaric Acidemia, Type I Identified by Newborn Screening

We report two women with glutaric acidemia type I in whom the diagnosis was unsuspected until a low carnitine level was found in their newborn children. Both mothers had low carnitine in plasma. In the first, organic acid analysis was only done after fibroblast studies revealed normal carnitine upta...

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Detalhes bibliográficos
Main Authors: Crombez, Eric A., Cederbaum, Stephen D., Spector, Elaine, Chan, Erica, Salazar, Denise, Neidich, Julie, Goodman, Stephen
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2474772/
https://ncbi.nlm.nih.gov/pubmed/18304851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.01.005
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