Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Molecular Genetics and Metabolism

Volumn 91, Issue 3, 2007, Pages 294-296

  Verbruggen, Krijn T ^a   Sijens, Paul E ^b   Schulze, Andreas ^c   Lunsing, Roelineke J ^b   Jakobs, Cornelis ^d   Salomons, Gajja S ^d   van Spronsen, Francjan J ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine; Guanidinoacetate; Guanidinoacetate methyltransferase; Magnetic resonance proton spectroscopy; Treatment

Indexed keywords

CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; ORNITHINE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DRUG EFFECT; DRUG EFFICACY; DRUG MEGADOSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; IMAGE ANALYSIS; INTELLIGENCE QUOTIENT; MISSENSE MUTATION; MOTOR PERFORMANCE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SYMPTOM; TREATMENT PLANNING;

BRAIN; CHILD DEVELOPMENT; CHILD, PRESCHOOL; CREATINE; DIETARY SUPPLEMENTS; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; TREATMENT OUTCOME;

EID: 34249297046     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.03.006     Document Type: Article

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