l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Edvardson, Simon; Korman, Stanley H; Livne, Amir; Shaag, Avraham; Saada, Ann; Nalbandian, Ruppen; Allouche-Arnon, Hyla; Gomori, J Moshe; Katz-Brull, Rachel

Edvardson, Simon; Korman, Stanley H; Livne, Amir; Shaag, Avraham; Saada, Ann; Nalbandian, Ruppen; Allouche-Arnon, Hyla; Gomori, J Moshe; Katz-Brull, Rachel.

Affiliation

Edvardson S; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. simon@hadassah.org.il

Mol Genet Metab ; 101(2-3): 228-32, 2010.

Article in En | MEDLINE | ID: mdl-20682460

Subject(s)

Amidinotransferases/deficiency; Amino Acid Metabolism, Inborn Errors/drug therapy; Creatine/therapeutic use; Adolescent; Amidinotransferases/genetics; Amino Acid Metabolism, Inborn Errors/diagnosis; Amino Acid Metabolism, Inborn Errors/pathology; Child; Cognition/drug effects; Female; Frameshift Mutation; Humans; Male; Treatment Outcome

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Full text: 1 Database: MEDLINE Main subject: Creatine / Amidinotransferases / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic_studies Language: En Journal: Mol Genet Metab Year: 2010 Type: Article Affiliation country: Israel

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