K. M. Gibson, E. Christensen, C. Jakobs, B. Fowler, M. A. Clarke, G. Hammersen, K. Raab, J. Kobori, A. Moosa, B. Vollmer, E. Rossier, A. K. Iafolla, D. Matern, O. F. Brouwer et al.
ABSTRACT. Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic spe cialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde de hydrogenase (SSADH) deficiency in the differential di agnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative or ganic acid analysis in such patients.Patients. The clinical features of 23 patients (20 fam ilies) with SSADH deficiency (4-hy…
scite is a Brooklyn-based startup that helps researchers better discover and evaluate scientific articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by researchers from dozens of countries and is funded in part by the National Science Foundation and the National Institute of Drug Abuse of the National Institutes of Health.