Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles. Both the patient's age at the onset of Pompe disea...
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Elsevier,
2013-08-01T00:00:00Z.
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