A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening
Regina Ensenauer(Max Rubner Institut), Dietrich Matern(Mayo Clinic), Jerry Vockley(University of Pittsburgh), Joseph C. Huey(Mayo Clinic), Sarah C. Grünert(University Medical Center Freiburg), Jörn Oliver Sass(Boston Children's Hospital), Hans‐Georg Koch(University of Freiburg), Piero Rinaldo(Mayo Clinic), René Santer(Universität Hamburg), Steven D. Edland(Mayo Clinic), Iris Marquardt(Klinikum Oldenburg), Barbara K. Burton(Women & Children's Hospital of Buffalo), Susan A. Berry(University of Minnesota), Jan-Marie Willard(Mayo Clinic), Sihoun Hahn(Mayo Clinic)
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