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

Verbruggen, Krijn T; Sijens, Paul E; Schulze, Andreas; Lunsing, Roelineke J; Jakobs, Cornelis; Salomons, Gajja S; van Spronsen, Francjan J

Verbruggen, Krijn T; Sijens, Paul E; Schulze, Andreas; Lunsing, Roelineke J; Jakobs, Cornelis; Salomons, Gajja S; van Spronsen, Francjan J.

Affiliation

Verbruggen KT; Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. k.t.verbruggen@bkk.umcg.nl

Mol Genet Metab ; 91(3): 294-6, 2007 Jul.

Article in En | MEDLINE | ID: mdl-17466557

Subject(s)

Creatine/therapeutic use; Dietary Supplements; Guanidinoacetate N-Methyltransferase/deficiency; Brain/metabolism; Child Development; Child, Preschool; Creatine/blood; Glycine/analogs & derivatives; Glycine/blood; Glycine/urine; Humans; Magnetic Resonance Spectroscopy; Treatment Outcome

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Database: MEDLINE Main subject: Dietary Supplements / Creatine / Guanidinoacetate N-Methyltransferase Type of study: Diagnostic_studies Language: En Journal: Mol Genet Metab Year: 2007 Type: Article Affiliation country: Netherlands

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