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  1. Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.

    Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an

  2. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

    BACKGROUND: Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients. METHODS: The authors collected data from

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