Browsing Biomedical Sciences by Author "Tasneem, Sadia"
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A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar, D; Umer Niazullah, Maryam; Tasneem, Sadia; Judith, E; Susmita, B; George Priya Doss, C; Selvarajan, E; Zayed, Hatem... more authors ... less authors ( Wiley , 2019 , Article)Pompe disease is an autosomal recessive lysosomal storage disease caused by acid α-glucosidase (GAA) deficiency, resulting in intralysosomal accumulation of glycogen, including cardiac, skeletal, and smooth muscle cells. ...