Article
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2001
Van Buggenhout G J, Trijbels J M, Wevers R, Trommelen J C, Hamel B C, Brunner H G, Fryns J P
Abstract excerpt
In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder (phenylketonuria (n = 5), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and...
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