Enzyme Assay for Diagnosis of Guanidinoacetate Meth
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چکیده
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منابع مشابه
Guanidinoacetate methyltransferase (GAMT) deficiency
Keywords Disease name and synonyms Excluded diseases Diagnostic criteria / definition Prevalence Clinical description Management including treatment Etiology Diagnostic methods Genetic counseling / Prenatal diagnosis Unresolved Problems References Abstract Guanidinoacetate methyltransferase (GAMT, EC 2.1.1.2) deficiency is a newly recognized inborn error of creatine synthesis. The clinical phen...
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