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• W1993419451 abstract "Deficiency of guanidinoacetate methyltransferase (GAMT), the first described creatine biosynthesis defect, leads to depletion of creatine and phosphocreatine, and accumulation of guanidinoacetate in brain. This results in epilepsy, mental retardation, and extrapyramidal movement disorders. Investigation of skeletal muscle by proton and phosphorus magnetic resonance spectroscopy before therapy demonstrated the presence of considerable amounts of creatine and phosphocreatine, and accumulation of phosphorylated guanidinoacetate in a 7-year-old boy diagnosed with GAMT deficiency, suggesting separate mechanisms for creatine uptake and synthesis in brain and skeletal muscle. The combination of creatine supplementation and a guanidinoacetate-lowering therapeutic approach resulted in improvement of clinical symptoms and metabolite concentrations in brain, muscle, and body fluids." @default.
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• W1993419451 date "2004-07-01" @default.
• W1993419451 modified "2023-10-18" @default.
• W1993419451 title "Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle" @default.
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• W1993419451 doi "https://doi.org/10.1016/j.ymgme.2004.04.005" @default.
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