Glycine N-methyltransferase deficiency: A new patient with a novel mutation

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Creatine transporter deficiency in two adult patients with static encephalopathy

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Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy

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Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

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Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

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