Pediatric Neurology Briefs
Published 2002 | Version v1.0.0
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Maple Syrup Disease: Diagnosis and Therapy

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Abstract

Infants at high risk for maple syrup disease (MSD) were identified by family history and molecular testing for the Y393N mutation of the E1a subunit of the branched chain a-ketoacid dehydrogenase in a study at Johns Hopkins University School of Medicine, Baltimore, MD.

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PNB-16-46-a

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Created
2002
When the item was originally created.