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Keywords: creatine transport
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Cerebral Creatine Deficiency Disorders
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Peter W. Schutz and Sylvia Stockler
Published: 01 August 2016
... (arginine:glycine [AGAT; MIM 602360]; guanidinoacetate methyltransferase deficiency [GAMT; MIM 601240]) and of creatine transport (SLC6A8 deficiency [SLC6A8; MIM 300036]). Inborn errors of creatine synthesis-but not, as yet, of transport-can be treated by creatine substitution and are thus treatable causes...
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