A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type o...

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Detalles Bibliográficos
Autores principales: Moravej, Hossein, Amirhakimi, Anis, Showraki, Alireza, Amoozgar, Hamid, Hadipour, Zahra, Nikfar, Ghasem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Journal of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936855/
https://www.ncbi.nlm.nih.gov/pubmed/29749992

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