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pro vyhledávání: '"Blas A. Sánchez Peral"'
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 418
Background Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes. The wide