Funder
Indian Council of Medical Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference34 articles.
1. Gravel R, Koback M, Proia R, Sandhoff K, Suzuki K, et al. The GM2 gangliosidosis. In: Scriver CR, Beaudet AL, Ly WS, Valle D, editors. The metabolic and molecular basis of inherited diseases. vol. 3, VIIth ed. New York: McGraw-Hill; 2001. p. 3827–76.
2. Sonnino S, Chigorno V. Ganglioside molecular species containing C18- and C20-sphingosine in mammalian nervous tissues and neuronal cell cultures. Biochim Biophys Acta 2000;1469:63–77.
3. Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep 2014;12:51–63.
4. Myerowitz R, Costigan F. The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for alpha-chain of beta-hexosaminidase. J Biol Chem 1988;263:18587–9.
5. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay–Sachs disease carrier screening, prenatal diagnosis and the molecular era. An international perspective, 1970–93. The International TSD data collection Network. JAMA 1993;270:2307–15.
Cited by
5 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献