scholarly journals 43. Recombinant AAV-Mediated Correction of Skeletal Muscle Biochemical and Functional Defects in a Mouse Model of Glycogen Storage Disease Type II, Pompe Disease

2002 ◽  
Vol 5 (5) ◽  
pp. S16-S17
Keyword(s):  
Skeletal Muscle ◽  
Mouse Model ◽  
Glycogen Storage Disease ◽  
Pompe Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Functional Defects

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

2007 ◽  
Vol 17 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Rachel E. Palmer ◽  
Hernan M. Amartino ◽  
Gabriela Niizawa ◽  
Mariana Blanco ◽  
Robert J. Pomponio ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Pompe Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease)

2014 ◽  
Vol 41 (9) ◽  
pp. 6211-6214 ◽  
Author(s):  
Omid Aryani ◽  
Masoumeh Dehghan Manshadi ◽  
Mahdi Tondar ◽  
Elham Khalili ◽  
Behnam Kamalidehghan ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Pompe Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Gaa Gene

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

1999 ◽  
Vol 189 (3) ◽  
pp. 416-424 ◽  
Author(s):  
Agnes G. A. Bijvoet ◽  
Hans Van Hirtum ◽  
Marcel Vermey ◽  
Dik Van Leenen ◽  
Ans T. Van der Ploeg ◽  
...  
Keyword(s):  
Mouse Model ◽  
Glycogen Storage Disease ◽  
Knockout Mouse ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Pathological Features ◽  
Knockout Mouse Model
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