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Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism

Metabolic SyndromeGuanidinoacetate Methyltransferase DeficiencyMetabolic DisorderGenetic DisorderMetabolic DiseaseGeneticsGenetic EpidemiologyPediatricsInherited Metabolic DiseaseNew Inborn ErrorCreatine Deficiency SyndromeMetabolomicsMetabolismMedicine