[1]
Schulze A.: Creatine deficiency syndromes. Mol Cell Biochem. 2003; 244 (1–2): 143–150.
[2]
Salomons G.S., van Dooren S.J.M., Verhoeven N.M. et al.: X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome. Am J Hum Genet. 2001; 68(6): 1497–1500.
[3]
Christie D.L.: Functional insights into the creatine transporter. In: Salo-mons G.S., Wyss M.: Creatine and Creatine Kinase in Health and Dis-ease. (Subcellular Biochemistry). Springer, Dordrecht 2007; 99–108.
[4]
Snow R.J., Murphy R.M.: Creatine and the creatine transporter: A re-view. Mol Cell Biochem. 2001; 224: 169–181.
[5]
Stockler S., Schutz P.W., Salomons G.S.: Cerebral Creatine Deficiency Syndromes: Clinical Aspects, Treatment and Pathophysiology. In: Salo-mons G.S., Wyss M.: Creatine and Creatine Kinase in Health and Dis-ease. (Subcellular Biochemistry). Springer, Dordrecht 2007; 149–166.
[6]
Lemska A., Zawadzka M., Lemka M., et al.: Obraz kliniczny deficytu transportera kreatyny. Opis przypadku. Neurol Dziec 2018; 55: 45–49.
[7]
Mercimek-Mahmutoglu S., Pop A. et al.: A pilot study to estimate inci-dence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. Gene. 2016; 575(1): 127–131.
[8]
Battini R., Leuzzi V., Carducci C. et al.: Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab. 2002; 77(4): 326–331.
[9]
Clark A.J., Rosenberg E.H., Almeida L.S. et al.: X-linked creatine trans-porter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet. 2006; 119(6): 604–610.
[10]
van de Kamp J.M., Mancini G.M., Salomons G.S.: X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. 2014; 37(5): 715–733.
[11]
Braissant O., Henry H., Loup M. et al.: Endogenous synthesis and trans-port of creatine in the rat brain: an in situ hybridization study. Mol Brain Res. 2001; 86(1–2): 193–201.
[12]
Kurosawa Y., DeGrauw T.J., Lindquist D.M. et al.: Cyclocreatine treat-ment improves cognition in mice with creatine transporter deficiency. J Clin Invest. 2012; 122(8): 2837–2846.
[13]
Wang Q., Yang J., Liu Y. et al.: A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. BMC Med Genet. 2018; 19(1): 193.
[14]
Brosnan J.T., Brosnan M.E.: Creatine: Endogenous Metabolite, Dietary, and Therapeutic Supplement. Annu Rev Nutr. 2007; 27(1): 241–261.
[15]
van de Kamp J.M., Betsalel O.T., Mercimek-Mahmutoglu S. et al.: Phe-notype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013; 50(7): 463–472.
[16]
DesRoches C.-L., Patel J., Wang P. et al.: Estimated carrier frequency of creatine transporter deficiency in females in the general population us-ing functional characterization of novel missense variants in the SLC6A8 gene. Gene. 2015; 565(2): 187–191.
[17]
Kleefstra T., Rosenberg E., Salomons G. et al.: Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation: Letter to the Editor. Clin Genet. 2005; 68(4): 379–381.
[18]
Leuzzi V., Alessandrì M.G., Casarano M. et al.: Arginine and glycine stim-ulate creatine synthesis in creatine transporter 1-deficient lymphoblasts. Anal Biochem. 2008; 375(1): 153–155.
[19]
Almeida L.S., Verhoeven N.M., Roos B. et al.: Creatine and guanidinoac-etate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab. 2004; 82(3): 214–219.
[20]
Arias A., Corbella M., Fons C. et al.: Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in me-tabolite screening. Clin Biochem. 2007; 40(16–17): 1328–1331.
[21]
Dreha-Kulaczewski S., Kalscheuer V., Tzschach A. et al.: A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizy-gous Males and Heterozygous Females. In: Zschocke J., Gibson K.M., Brown G., et al.: JIMD Reports – Case and Research Reports, Volume 13. Springer Berlin Heidelberg, Berlin, Heidelberg 2013; 91–99.
[22]
Dezortova M., Jiru F., Petrasek J. et al.: 1H MR spectroscopy as a diag-nostic tool for cerebral creatine deficiency. Magn Reson Mater Phys Biol Med. 2008; 21(5): 327–332.
[23]
Rosenberg E.H., Almeida L.S., Kleefstra T. et al.: High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation. Am J Hum Genet. 2004; 75(1): 97–105.
[24]
Ensembl: Gene: SLC6A8. Address: http://www.ensembl.org/Homo_sapiens/Gene/Variation_Gene/Table?g=ENSG00000130821;r=X:153687926-153696588. Access date: 23.09.2019, at 8.15 PM.
[25]
Baroncelli L., Alessandrì M.G., Tola J. et al.: A novel mouse model of creatine transporter deficiency. F1000Research. 2014; 3: 228.
[26]
Skelton M.R., Schaefer T.L., Graham D.L. et al.: Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency. Skou-lakis EMC, editor. PLoS ONE. 2011; 6(1): e16187.
[27]
Nota B., Ndika J.D.T., van de Kamp J.M. et al.: RNA Sequencing of Crea-tine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix. Hum Mutat. 2014; 35(9): 1128–1135.
[28]
Perasso L., Spallarossa P., Gandolfo C. et al.: Therapeutic Use of Creatine in Brain or Heart Ischemia: Available Data and Future Perspectives: THERA-PEUTIC USE OF CREATINE IN BRAIN. Med Res Rev. 2013; 33(2): 336–363.
[29]
Kitzenberg D., Colgan S.P., Glover L.E.: Creatine kinase in ischemic and inflammatory disorders. Clin Transl Med. 2016; 5(1): 31.
[30]
Dunbar M., Jaggumantri S., Sargent M. et al.: Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the lit-erature and three new cases. Mol Genet Metab. 2014; 112(4): 259–274.
[31]
Braissant O., Henry H., Béard E. et al.: Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011; 40(5): 1315–1324.
[32]
Adriano E., Garbati P., Perasso L. et al.: Electrophysiology and biochemi-cal analysis of cyclocreatine uptake and effect in hippocampal slices. J Integr Neurosci. 2013; 12(02): 285–297.
[33]
Schimmel L., Khandekar V.S., Martin K.J. et al.: The synthetic phos-phagen cyclocreatine phosphate inhibits the growth of a broad spectrum of solid tumors. Anticancer Res. 1996; 16(1): 375–380.
[34]
Teicher B.A., Menon K., Northey D. et al.: Cyclocreatine in cancer chem-otherapy. Cancer Chemother Pharmacol. 1995; 35(5): 411–416.
[35]
Ullio-Gamboa G., Udobi K.C., Dezard S. et al.: Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. Nanomed. 2019;14(12): 1579–1593.
[36]
Trotier-Faurion A., Passirani C., Béjaud J. et al.: Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency. Nanomed. 2015; 10(2): 185–191.
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