Maple Syrup Disease: Diagnosis and Therapy
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.
DOI: https://doi.org/10.15844/pedneurbriefs-16-6-8 | Journal eISSN: 2166-6482
Language: English
Page range: 46 - 46
Published on: Jun 1, 2002
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2002 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.