Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

Medicine, Pediatrics, Mass Spectrometric Analysis +14

Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Andreas Schulze, Martin Lindner, Dirk Kohlmüller et al. · PEDIATRICS · 2003 · 515 citations

Medicine, Pediatrics, Mass Spectrometric Analysis +16

Glutaric aciduria; A “new” disorder of amino acid metabolism

Stephen I. Goodman, Sanford P. Markey, Paul G. Moe et al. · Biochemical Medicine · 1975 · 337 citations

Life Sciences, Biochemistry, Molecular Medicine +12

Type I glutaric aciduria, part 1: Natural history of 77 patients

Kevin A. Strauss, Erik G. Puffenberger, D. Holmes Morton · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2003 · 322 citations

Medicine, Neurology, Pediatrics +13

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

G. F. Hoffmann, S. Athanassopoulos, A Burlina et al. · Neuropediatrics · 1996 · 227 citations

Life Sciences, Neurology, Nutrition +15