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3,001 results
  • Tay-Sachs disease: a novel mutation from India. [Case Reports]
  • BCBMJ Case Rep 2018 Dec 13; 11(1)
  • Khera D, John J, … Faruq M
  • Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this numb…
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