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

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

December 2004

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