Associated Papers
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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
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Molecular Genetics and Metabolism, 2015
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
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Neuromuscular Disorders : Nmd, 2013
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Ndika JD et al.
Molecular Genetics and Metabolism, 2012
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.
Edvardson S et al.
Molecular Genetics and Metabolism, 0
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