Global developmental delay in guanidionacetate methyltransferase deficiency: Differences in formal testing and clinical observation

European Journal of Pediatrics

Volumn 166, Issue 9, 2007, Pages 921-925

  Verbruggen, Krijn T ^a   Knijff, Wilma A ^b   Soorani Lunsing, Roelineke J ^b   Sijens, Paul E ^b   Verhoeven, Nanda M ^c   Salomons, Gajja S ^c   Goorhuis Brouwer, Siena M ^b   Van Spronsen, Francjan J ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Etiology; Guanidinoacetate N methyltransferase; Language development disorder; Mental retardation; Treatment

Indexed keywords

CREATININE; GUANIDINOACETATE METHYLTRANSFERASE;

ARTICLE; BODY FLUID; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL STUDY; DRUG BLOOD LEVEL; ENZYME DEFICIENCY; HUMAN; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; METABOLITE; OBSERVATIONAL STUDY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCREENING; SUPPLEMENTATION;

AMINO ACIDS; CHILD, PRESCHOOL; CREATINE; DEVELOPMENTAL DISABILITIES; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; METABOLISM, INBORN ERRORS;

EID: 34547110514     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0340-8     Document Type: Article

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