Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

✍ Scribed by Brage Storstein Andresen; Steve F. Dobrowolski; Linda O'Reilly; Joseph Muenzer; Shawn E. McCandless; Dianne M. Frazier; Szabolcs Udvari; Peter Bross; Inga Knudsen; Rick Banas; Donald H. Chace; Paul Engel; Edwin W. Naylor; Niels Gregersen

• Book ID: 117853622
• Publisher: American Society of Human Genetics
• Year: 2001
• Tongue: English
• Weight: 859 KB
• Volume: 68
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/320602