A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening
Regina Ensenauer(Zimmer Biomet (Netherlands)), Dietrich Matern(Mayo Clinic), Jerry Vockley(Pittsburgh Public Schools), 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(WinnMed), 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)
Cited by 167
Related Papers
Cockayne syndrome: Review of 140 cases
|American Journal of Medical Genetics|1992|807
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
|Genetics in Medicine|2014|718
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Effects of Diet and Physical Activity Interventions on Weight Loss and Cardiometabolic Risk Factors in Severely Obese Adults
|JAMA|2010|554
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
|New England Journal of Medicine|2007|355