Molecular diagnosis of type 1c glycogen storage disease

1999 ◽  
Vol 104 (3) ◽  
pp. 275-277 ◽  
Author(s):  
A. R. Janecke ◽  
Nils U. Bosshard ◽  
Ertan Mayatepek ◽  
Andreas Schulze ◽  
Richard Gitzelmann ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage

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

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel

2020 ◽  
Vol 63 (6) ◽  
pp. 103921
Author(s):  
Tae Hyeong Kim ◽  
Kwang Yeon Kim ◽  
Man Jin Kim ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Disease Gene ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Gene Panel

scholarly journals Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

2016 ◽  
Vol 18 (10) ◽  
pp. 1037-1043 ◽  
Author(s):  
Ana I Vega ◽  
Celia Medrano ◽  
Rosa Navarrete ◽  
Lourdes R Desviat ◽  
Begoña Merinero ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Clinical Symptoms ◽  
Glycogen Storage ◽  
Massive Parallel Sequencing ◽  
Parallel Sequencing ◽  
Disease And Disorders
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