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Autor:
Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah
Publikováno v:
Expert Opinion on Biological Therapy. 22:1117-1135
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A lack of GAA leads to accumulation of glycogen in the lysosomes of cardiac, skeletal, and