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A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
(2019)Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both ...