A large Alu -mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

1999 ◽  
Vol 104 (1) ◽  
pp. 94-98 ◽  
Author(s):  
M. L. Huie ◽  
A. L. Shanske ◽  
J. S. Kasper ◽  
R. W. Marion ◽  
R. Hirschhorn
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Basis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

A case of glycogen storage disease type II with double aortic arch

2000 ◽  
Vol 89 (7) ◽  
pp. 884-886 ◽  
Author(s):  
F Akalin ◽  
G Alper ◽  
F Ouztunç ◽  
E KotilogUlu ◽  
S Turan
Keyword(s):  
Aortic Arch ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Double Aortic Arch ◽  
Type Ii

scholarly journals Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

2005 ◽  
Vol 11 (6) ◽  
pp. 889-898 ◽  
Author(s):  
Baodong Sun ◽  
Haoyue Zhang ◽  
Luis M. Franco ◽  
Talmage Brown ◽  
Andrew Bird ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Virus Vector ◽  
Type Ii ◽  
Adeno Associated Virus

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

Neurogenetics ◽  
1998 ◽  
Vol 1 (3) ◽  
pp. 205-211 ◽  
Author(s):  
M. Vorgerd ◽  
Barbara Burwinkel ◽  
Heinz Reichmann ◽  
Jean-Pierre Malin ◽  
Manfred W. Kilimann
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Allelic Heterogeneity ◽  
Type Ii ◽  
Adult Onset
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