[1]
Myerowitz R.: Tay-Sachs disease-causing mutations and neutral poly-morphisms in the Hex A gene. Hum Mutat 1997; 9: 195–208.
[2]
Mistri M., Tamhankar P., Sheth F., et al.: Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. PLoS One. 2012; 7(6): e39122.
[3]
Gravel R.A., Triggs-Raine B.L., Mahuran DJ.: Biochemistry and genetics of Tay-Sachs disease. Can J Neurol Sci 1991; 18: 419–423.
[4]
Bach G., Tomczak J., Risch N., et al.: Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. Am J Med Genet 2001; 99: 70–75.
[5]
Pavone P., Praticò A.D., Rizzo R., et al.: A clinical review on megalen-cephaly: A large brain as a possible sign of cerebral impairment. Medi-cine (Baltimore). 2017 Jun; 96(26): e6814.
[6]
Maegawa G., Stockley T., Tropak M., et al.: The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatr Res 2006; 118(5): 1550–1562.
[7]
MacQueen G.M., Rosebush P.I., Mazurek M.F.: Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neuro-sci 1998; 10(1): 9–10.
[8]
Wenger D.A., Coppola S., Liu S.L.: Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 2003; 60(3): 322–328.
[9]
Specola N., Vanier, M. T., Goutières F., et al.: The juvenile and chronic forms of GM2 gangliosidosis Clinical and enzymatic heterogeneity. Neu-rology 1990; 40 (1): 145–150.
[10]
Barritt A.W., Anderson S.J., Leigh P.N., et al.: Late – onset Tay-Sachs disease. Pract Neurol 2017; 17(5): 396–399.
[11]
Steczkowska M., Gergont A., Kroczka S., et al.: Obraz kliniczny gan-gliozydozy GM1 i GM2 w materiale własnym. Przegl Lek 2008; 65(11): 819–823.
[12]
Bayram, Topcu Y., Akinci G., et al.: Magnetic Resonance Imaging Find-ings In A Boy With Tay-Sachs Disease. http://acikerisim.deu.edu.tr/xm-lui/handle/12345/2854.
[13]
Millichap J.G.: Juvenile GM2 Gangliosidoses. Pediatr Neurol Briefs 2006; 20(11): 86–86.
[14]
Jakóbkiewicz-Banecka J., Wegrzyn A., Wegrzyn G.: Substrate depri-vation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet. 2007; 48(4): 383–388.
[15]
Tropak M. B., Yonekawa S., Karumuthil-Melethil S., et al.: Construction of a hybrid beta-hexosaminidase subunit capable of forming stable homo-dimers that hydrolyze GM2 ganglioside in vivo. Mol. Ther. Methods Clin. Dev. 2016; 3: 15057.
[16]
Platt F. M., Jeyakumar M., Andersson U., et all.: Substrate reduction therapy in mouse models of the glycosphingolipidoses. Philos. Trans. R. Soc. Lond. B Biol. Sci. 2003; 358 947–954.
[17]
Bembi B., Marchetti F., Guerci V. I., et al.: Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology 2006; 66: 278–280.
[18]
Jacobs J. F., Willemsen M. A., Groot-Loonen J. J., et all.: Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005; 36 925–926.
[19]
Kitakaze K., Tasaki C., Tajima Y., et al.: Combined replacement effects of human modified – hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts. Biochem Biophys Rep 2016; 8(7): 157–163.
[20]
Cachon-Gonzalez M.B., Zaccariotto E., Cox T.M.: Genetics and Therapies for GM2 Gangliosidosis. Curr Gene Ther 2018; 18(2): 68–89.
[21]
Vellodi A., Desnik R.J.: Lysosomal storage disorders. Enzyme replace-ment and enhancement therapies for lysosomal diseases. Br J Haematol 2005; 128: 413–431.