High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

van Spronsen, F J; Reijngoud, D J; Verhoeven, N M; Soorani-Lunsing, R J; Jakobs, C; Sijens, P E

van Spronsen, F J; Reijngoud, D J; Verhoeven, N M; Soorani-Lunsing, R J; Jakobs, C; Sijens, P E.

Affiliation

van Spronsen FJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. f.j.van.spronsen@bkk.umcg.nl

Mol Genet Metab ; 89(3): 274-6, 2006 Nov.

Article in En | MEDLINE | ID: mdl-16580861

Subject(s)

Amino Acid Metabolism, Inborn Errors/therapy; Argininosuccinate Synthase/deficiency; Argininosuccinic Aciduria; Brain/metabolism; Creatine/metabolism; Glycine/analogs & derivatives; Arginine/blood; Child; Child, Preschool; Creatine/blood; Creatine/urine; Female; Glycine/blood; Glycine/metabolism; Glycine/urine; Humans; Infant, Newborn; Male; Pregnancy

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Collection: 01-internacional Database: MEDLINE Main subject: Argininosuccinate Synthase / Brain / Creatine / Argininosuccinic Aciduria / Amino Acid Metabolism, Inborn Errors / Glycine Limits: Child / Child, preschool / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2006 Document type: Article Affiliation country: Netherlands

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