SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry.
From the Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy; and Departments of Neurology and Pediatrics (S.M.G.), University of Washington, and Division of Neurology, Seattle Children's Hospital, Seattle, WA.
Enrico
E
Bertini
From the Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy; and Departments of Neurology and Pediatrics (S.M.G.), University of Washington, and Division of Neurology, Seattle Children's Hospital, Seattle, WA. sgospe@uw.edu.
Sidney M
SM
Gospe
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000523:psychology*; D016208:Databases, Factual / Q000639:trends*; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000523:psychology*; D005260:Female; D006801:Humans; D008297:Male; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency*
D050644:Succinate-Semialdehyde Dehydrogenase