The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients
Publication year
1997Author(s)
Gibson, K.M.
Christensen, E.
Jakobs, C.
Fowler, B.
Clarke, M.A.
Hammersen, G.
Raab, K.
Kobori, J.
Moosa, A.
Vollmer, B.
Rossier, E.
Kimberly Iafolla, A.
Matern, D.
Brouwer, O.F.
Finkelstein, J.
Aksu, F.
Weber, H.-P.
Bakkeren, J.A.J.M.
Gabreëls, F.J.M.
Bluestone, D.
Barron, T.F.
Beauvais, P.
Rabier, D.
Santos, C.R.
Umansky, R.
Lehnert, W.
Source
Pediatrics (Evanston), 99, 4, (1997), pp. 567-574ISSN
Publication type
Article / Letter to editor

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Journal title
Pediatrics (Evanston)
Volume
vol. 99
Issue
iss. 4
Page start
p. 567
Page end
p. 574
Subject
Central Nervous System; Chemistry, Clinical; Energy Metabolism; Fibroblasts; Genetics, Biochemical; Hereditary Diseases; Homocystinuria; Mental Disorders; Metabolic Diseases; Metabolic Processes (Non MeSH); Metabolism, Inborn Errors; Mitochondria; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Neural Tube Defects; Neuromuscular Diseases; Pregnancy Complications, Cardiovascular; Vascular DiseasesThis item appears in the following Collection(s)
- Academic publications [227248]
- Electronic publications [108577]
- Open Access publications [77813]
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