1. Kaback MM, Desnick RJ, Pagon RA, Adam MP, Ardinger HH, Wallace SE, et al. Hexosaminidase a deficiency gene reviews [Internet]. Seattle: University of Washington, Seattle; 1999 [Updated 2011 Aug 11]. Available From: https://www.ncbi.nlm.nih.gov/pubmed/20301397. [
Link]
2. Mittal P, Gupta R, Garg P, Mittal A, Kaur H, Gupta S. CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. Neurol India. 2016;64(6):1372-1373 [
Link] [
DOI:10.4103/0028-3886.193818] [
PMID]
3. Sandhoff K. Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism. Biochimie. 2016;130:146-15. [
Link] [
DOI:10.1016/j.biochi.2016.05.004] [
PMID]
4. Dersh D, Iwamoto Y, Argon Y. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. Mol Biol Cell. 2016; 27(24):3813-27. [
Link] [
DOI:10.1091/mbc.e16-01-0012] [
PMID] [
PMCID]
5. Georgiou T, Christopoulos G, Anastasiadou V, Hadjiloizou S, Cregeen D, Jackson M, et al. The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. Meta Gene. 2014;2:200-5. [
Link] [
DOI:10.1016/j.mgene.2014.01.007] [
PMID] [
PMCID]
6. Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, et al. Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience. J Paediatr Child Health. 2015;51(3):271-9. [
Link] [
DOI:10.1111/jpc.12632] [
PMID]
7. Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr. 2012;49(10):799-804. [
Link] [
DOI:10.1007/s13312-012-0192-4]
8. Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011;128(5):e1233-41. [
DOI:10.1542/peds.2011-0078] [
PMID] [
PMCID]
9. Gort L, de Olano N, Macías-Vidal J, Coll MA. GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012;506(1):25-30. [
Link] [
DOI:10.1016/j.gene.2012.06.080] [
PMID]
10. Deik A, Saunders-Pullman R. Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 2014;49(5):768-71. [
Link] [
DOI:10.1002/mus.24146] [
PMID] [
PMCID]
11. Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 2014;23(3):730-48. [
Link] [
DOI:10.1093/hmg/ddt459] [
PMID] [
PMCID]