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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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2013-08-01
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| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957213000454 |
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