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The Outcome of Infantile Onset Pompe Disease in South of Iran
BACKGROUND: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ s...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kowsar
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733296/ https://www.ncbi.nlm.nih.gov/pubmed/26848380 http://dx.doi.org/10.5812/ijp.4473 |