Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

Robert Guthrie, Ada Susi · PEDIATRICS · 1963 · 2.2K citations

Medicine, Pediatrics, Early Detection +7

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

Phillip L. Pearl, K. Michael Gibson, Maria T. Acosta et al. · Neurology · 2003 · 210 citations

Life Sciences, Infectious Diseases, Microbiology +17

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto et al. · Human Mutation · 2003 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

From Public Health Emergency to Public Health Service: The Implications of Evolving Criteria for Newborn Screening Panels

Scott D. Grosse, Coleen A. Boyle, Aileen Kenneson et al. · PEDIATRICS · 2006 · 130 citations

Medicine, Child Health, Pediatrics +17

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency

Phillip L. Pearl, K. Michael Gibson, Zenaide Quezado et al. · Neurology · 2009 · 99 citations · Full text

Life Sciences, Neuroscience, Psychiatry +17