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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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Bibliografische gegevens
Hoofdauteurs: Crombez, Eric A., Cederbaum, Stephen D., Spector, Elaine, Chan, Erica, Salazar, Denise, Neidich, Julie, Goodman, Stephen
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2008
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Online toegang: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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