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 disease sy...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013-08-01
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| coleção: | Pediatrics and Neonatology |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S1875957213000454 |
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