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GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
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Article Abstract
Guanidinoactetate methyltransferase deficiency should be considered in patients with unexplained intellectual disability, and urinary guanidinoacetate should be determined as an initial diagnostic approach.
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cognition
genetic neurologic disorders
guanidinoacetate methyltransferase deficiency
intellectual deficit
intellectual deficit,treatable causes of
movement disorder
seizure
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