Maple Syrup Disease: Diagnosis and Therapy

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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Bibliographic Details
Main Author: J Gordon Millichap (Author)
Format: Book
Published: Pediatric Neurology Briefs Publishers, 2002-06-01T00:00:00Z.
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3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available