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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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pediatric Neurology Briefs Publishers
2002-06-01
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| coleção: | Pediatric Neurology Briefs |
| Assuntos: | |
| Acesso em linha: | https://www.pediatricneurologybriefs.com/articles/1621 |
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