Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
- 1 March 2003
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 26 (2-3) , 299-308
- https://doi.org/10.1023/a:1024453704800
Abstract
Summary: Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoaceteate methyltransferas...Keywords
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