A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

✍ Scribed by Regina Ensenauer; Jerry Vockley; Jan-Marie Willard; Joseph C. Huey; Jörn Oliver Sass; Steven D. Edland; Barbara K. Burton; Susan A. Berry; René Santer; Sarah Grünert; Hans-Georg Koch; Iris Marquardt; Piero Rinaldo; Sihoun Hahn; Dietrich Matern

• Book ID: 117854552
• Publisher: American Society of Human Genetics
• Year: 2004
• Tongue: English
• Weight: 507 KB
• Volume: 75
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/426318