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Free Radical Biology and Medicine 2011;51, 1329-1336, doi: 96
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Recent studies have highlighted creatines role in cellular energy maintenance, mitochondrial protection, and even neuromuscular function
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This group of abnormalities comprised the three enzymatic defects in the synthesis of creatine:arginine:glycine amidinotransferase (AGAT) deficiency (OMIM 612718), guanidinoacetate methyltransferase (GAMT) deficiency (OMIM 612736), and SLC6A8 deficiency (OMIM 300352)
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