scholarly journals First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

2015 ◽  
Vol 2 (s1) ◽  
pp. S26-S26
Author(s):  
S.S. Nikitin ◽  
M.O. Kovalchuk ◽  
E.A. Proskurina ◽  
I.V. Khoroshaya
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Late Onset ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
First Case

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

2008 ◽  
Vol 31 (S2) ◽  
pp. 261-265 ◽  
Author(s):  
P. R. Joshi ◽  
D. Gläser ◽  
S. Schmidt ◽  
M. Vorgerd ◽  
M. Winterholler ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

Two new missense mutations of GAA in late onset glycogen storage disease type II

2006 ◽  
Vol 251 (1-2) ◽  
pp. 113-117 ◽  
Author(s):  
Young-Eun Park ◽  
Kyu-Hyun Park ◽  
Chang-Hoon Lee ◽  
Cheol-Min Kim ◽  
Dae-Seong Kim
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Missense Mutations ◽  
Type Ii

Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis

2012 ◽  
Vol 67 (2) ◽  
pp. 65-68 ◽  
Author(s):  
G.K. Papadimas ◽  
K. Spengos ◽  
C. Papadopoulos ◽  
P. Manta
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

Late onset glycogen storage disease Type II with “reducing body”-like inclusions

2010 ◽  
Vol 29 (01) ◽  
pp. 36-40 ◽  
Author(s):  
N. Gayathri ◽  
T.C. Yasha ◽  
S. Vani ◽  
A.B. Taly ◽  
A. Nalini ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

2006 ◽  
Vol 27 (10) ◽  
pp. 999-1006 ◽  
Author(s):  
A.L.E. Montalvo ◽  
B. Bembi ◽  
M. Donnarumma ◽  
M. Filocamo ◽  
G. Parenti ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Mutation Profile
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