Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
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چکیده
منابع مشابه
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency w...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/323765