Guanidinoacetate methyltransferase (GAMT) deficiency: Late onset of movement disorder and preserved expressive language

Developmental Medicine and Child Neurology

Volumn 51, Issue 5, 2009, Pages 404-407

  O'Rourke, Declan J ^a   Ryan, Stephanie ^a   Salomons, Gajja ^b   Jakobs, Cornelis ^b   Monavari, Ahmad ^a   King, Mary D ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; ORNITHINE; RISPERIDONE; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; COGNITION; DIAGNOSTIC IMAGING; DIET RESTRICTION; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; EPILEPSY; FEMALE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; LANGUAGE DISABILITY; LEARNING DISORDER; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SIBLING; URINE LEVEL;

ADMINISTRATION, ORAL; ADOLESCENT; AGE OF ONSET; BIOLOGICAL MARKERS; BRAIN; CREATINE; CREATININE; FEMALE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; LEARNING DISORDERS; MAGNETIC RESONANCE IMAGING; MOVEMENT DISORDERS; ORNITHINE; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; TWINS, DIZYGOTIC;

EID: 64849083340     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03227.x     Document Type: Article

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