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

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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Bibliographic Details
Main Authors: Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Format: Article
Language:English
Published: Shiraz University of Medical Sciences 2018-03-01
Series:Iranian Journal of Medical Sciences
Subjects:
Enzyme replacement therapy
Glycogen storage disease type II
GAA protein
Human
Cardiomyopathy
Hypertrophy
Online Access:http://ijms.sums.ac.ir/index.php/IJMS/article/view/3341

Internet

http://ijms.sums.ac.ir/index.php/IJMS/article/view/3341

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