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- Title
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
- Authors
Gibson, K M; Christensen, E; Jakobs, C; Fowler, B; Clarke, M A; Hammersen, G; Raab, K; Kobori, J; Moosa, A; Vollmer, B; Rossier, E; Iafolla, A K; Matern, D; Brouwer, O F; Finkelstein, J; Aksu, F; Weber, H P; Bakkeren, J A; Gabreels, F J; Bluestone, D; Barron, T F; Beauvais, P; Rabier, D; Santos, C; Lehnert, W
- Abstract
To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients.
- Publication
Pediatrics, 1997, Vol 99, Issue 4, p567
- ISSN
1098-4275
- Publication type
Journal Article
- DOI
10.1542/peds.99.4.567