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Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
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Human Mutation, 2016
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
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Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
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Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
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Molecular Genetics and Metabolism, 2012
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