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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
GATM
gene.
Béard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi: 10.1111/j.1471-4159.2010.06935.x. Epub 2010 Aug 25. Review.
PubMed citation
Braissant O, Henry H, Béard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Review.
PubMed citation
Entrez
Gene
Item CB, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandrì MG, Bianchi MC, Tosetti M, Fornai F, Cioni G. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10.
PubMed citation
Morris SM Jr. Enzymes of arginine metabolism. J Nutr. 2004 Oct;134(10 Suppl):2743S-2747S; discussion 2765S-2767S. Review.
PubMed citation
Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review.
PubMed citation
OMIM:
L-ARGININE:GLYCINE
AMIDINOTRANSFERASE
Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review.
PubMed citation
Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol. 2004;51(4):875-82. Review.
PubMed citation
Reviewed: June 2011
Published: June 17, 2013
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