Report of two Cases of Tay–Sachs in Children of a Single Family

Abstract                 Background & aim: Tay–Sachs is a rare autosomal recessive and neurological disease caused by the accumulation of glycosphingolipid within cell lysosomes. Ganglioside accumulation is caused by a mutation in the beta-hexosaminidase (HEXA) gene and this mutation is reduced...

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Bibliographic Details
Main Authors: N Sharifi, R Rahimani, F Mardani, F Adelizadeh
Format: Article
Language:fas
Published: Yasuj University Of Medical Sciences 2019-07-01
Series:Armaghane Danesh Bimonthly Journal
Subjects:
Online Access:http://armaghanj.yums.ac.ir/article-1-2251-en.html