نتایج جستجو برای: 742
تعداد نتایج: 1475 فیلتر نتایج به سال:
Medicinal Bioconvergence Research Center, College of Pharmacy, Seoul National University, Seoul 151-742, Korea. Research Institute of Pharmaceutical Sciences, Department of Pharmacy, College of Pharmacy, Seoul National University, Seoul 151-742, Korea. Department of Molecular Bioscience, Kang Won National University, Chuncheon-si, Gangwon-do, 200-701, Korea. School of Life Science and Biotechno...
230 words, Main text: 5493 words, 5 Tables, 10 Figures. * Corresponding author: Phone: (+33) 479 758 780. Fax: (+33) 479 758 742. Email: [email protected]
Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, sympto...
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