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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
(Orphanet J Rare Dis, 2013-06-20)
BACKGROUND: Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading ...