Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype

Genetic Counseling

Volumn 12, Issue 1, 2001, Pages 1-21

  Van Buggenhout, G J C M ^a   Trijbels, J M F ^a   Wevers, R ^a   Trommelen, J C M ^a   Hamel, B C J ^a   Brunner, H G ^a   Fryns, J P ^a  

^a CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Aminoacidopathy; CDG syndrome; Lysosomal disorder; Mental retardation; Metabolic disorders; Organic acid disorder; Purine pyrimidine disorder; SLO syndrome

Indexed keywords

METHIONINE SULFOXIDE REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CITRULLINEMIA; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION FUNCTION; CYSTINURIA; CYTOGENETICS; DIABETES MELLITUS; ENZYME DEFICIENCY; FEMALE; GENETIC SCREENING; GLYCINURIA; GM1 GANGLIOSIDOSIS; HUMAN; HYPERPROLINEMIA; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUCOPOLYSACCHARIDOSIS TYPE 7; NEURAMINACIDURIA; NIEMANN PICK DISEASE; ORNITHINEMIA; PHENOTYPE; PHENYLKETONURIA; SANFILIPPO SYNDROME; URACILURIA;

ADULT; FEMALE; HUMANS; MALE; MENTAL RETARDATION; METABOLIC DISEASES; PHENOTYPE; SYNDROME;

EID: 0035082624     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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