تصفح حسب الموضوع "GAA"
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A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
( 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. ...