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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tecellioglu, Mehmet, Kamisli, Ozden
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AVICENA, d.o.o., Sarajevo 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639334/
https://www.ncbi.nlm.nih.gov/pubmed/26622091
http://dx.doi.org/10.5455/medarh.2015.69.342-344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639334/
https://www.ncbi.nlm.nih.gov/pubmed/26622091
http://dx.doi.org/10.5455/medarh.2015.69.342-344

Ejemplares similares