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References

These sources were used to develop the Genetics Home Reference condition summary on X-linked creatine deficiency.

Anselm IA, Coulter DL, Darras BT. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29;70(18):1642-4. doi: 10.1212/01.wnl.0000310987.04106.45. PubMed citation
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
Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet. 2006 Jul;119(6):604-10. Epub 2006 Apr 26. PubMed citation
deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C. Congenital creatine transporter deficiency. Neuropediatrics. 2002 Oct;33(5):232-8. 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
Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. PubMed citation
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet. 2001 Jun;68(6):1497-500. Epub 2001 Apr 20. PubMed citation
Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003;26(2-3):309-18. Review. PubMed citation
Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review. PubMed citation
Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003;26(2-3):299-308. 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
van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clin Genet. 2011 Mar;79(3):264-72. doi: 10.1111/j.1399-0004.2010.01460.x. PubMed citation


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