[1]
Anselm I.M., Alkuraya F.S., Salomons G.S. et al: X-linked creatine trans-porter defect: A report on two unrelated boys with a severe clinical phe-notype, J Inherit Metab Dis. 2006 Feb; 29(1): 214–219. doi: 10.1007/s10545-006-0123-4.
[2]
O. Ardon O., Procter M., Mao R.: Creatine transporter deficiency: Novel mutations and functional studiem. Mol Genet Metab Rep. 2016 Sep; 8: 20–23. doi: 10.1016/j.ymgmr.2016.06.005.
[3]
Mercinek-Mahmutoglu S., Stoeckler-Ipsiroglu S., Adami A.: GAMT defi-ciency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006; 67: 480–484.
[4]
El-Gharbawy A.H., Goldstein J.L., Millington D.S.: Elevation of guanidino-acetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013; 109: 215–217.
[5]
Battini R., Leuzzi V., Carducci C.: Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab. 2002; 77: 326–331.
[6]
Stockler-Ipsiroglu S., Stromberger C., Item C.B.:Physician’s guide to the laboratory diagnosis of metabolic diseases. Springer, Heidelberg Berlin New York;2003: 467–480.
[7]
Battini R., Alessandri M.G., Leuzzi V.: Arginine:glycine amidinotransfer-ase (AGAT) deficiency in a newborn: early treatment can prevent pheno-typic expression of the disease. J Pediatr. 2006; 148: 828–830.Ryc. 2. Badanie spektroskopii MR. Widoczny obniżony pik kreatyny. Fig. 2. MR spectroscopy. Visible reduced creatine peak
[8]
Edvardson S., Korman S.H., Livne A.: L-arginine:glicyne amidinotransfer-aze (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab. 2010; 101: 228–232.
[9]
Stockler-Ipsiroglu S., Mercinek-Mahmutoglu S., Salomons G.: Creatine deficiency syndromes. Inborn Metabolic Diseases. Diagnosis and Treat-ment. 5 ed. Springer-Verlag; 2012: 239–247.
[10]
Clark J.F., Cecil K.M.: Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. Pediatr Res. 2015 Mar;77(3): 398–405. doi: 10.1038/pr.2014.203.
[11]
van de Kamp J.M., Mancini G.M., Salomons G.S.: X-linked creatine trans-porter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. 2014 Sep; 37(5): 715–733. doi: 10.1007/s10545-014-9713-8.
[12]
Rosenberg E.H., Almeida L.S., Kleefstra T.: High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation. Am J Hum Genet 2004 Jul; 75(1): 97–105. doi: 10.1086/422102/
[13]
Stockler-Ipsiroglu S., van Karnebeek C.D.: Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014, Jul; 34(3): 350–356. doi: 10.1055/s-0034-1386772.
[14]
van de Kamp J.M., Betsalel O.T., Mercimek-Mahmutoglu S.: Pheno-type and genotype in 101 males with X-linked creatine transporter de-ficiency. J Med Genet. 2013 Jul; 50(7): 463–472. doi: 10.1136/jmed-genet-2013-101658.