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Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis --- DIPPER study
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid -glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to...
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| Publicado no: | Revista Portuguesa de Pneumología |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sociedade Portuguesa de Pneumologia
2017
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| Assuntos: | |
| Acesso em linha: | https://www.redalyc.org/articulo.oa?id=169752194006 |
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