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Familial Pompe Disease
INTRODUCTION: Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy...
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| Publicat a: | Med Arch |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
AVICENA, d.o.o., Sarajevo
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4639334/ https://ncbi.nlm.nih.gov/pubmed/26622091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5455/medarh.2015.69.342-344 |
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