Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation

2000 ◽  
Vol 58 (5) ◽  
pp. 409-410 ◽  
Author(s):  
SL Wenger ◽  
SC McIntire ◽  
V Bansal ◽  
JA Barranger ◽  
J Higgins ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Syndrome Type ◽  
Type B ◽  
Sanfilippo Syndrome ◽  
Balanced Translocation ◽  
Type Ia

scholarly journals Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

2019 ◽  
Vol 13 ◽  
pp. 265-273 ◽  
Author(s):  
Hye-Ri Kang ◽  
Lauren Waskowicz ◽  
Andrea M. Seifts ◽  
Dustin J. Landau ◽  
Sarah P. Young ◽  
...  
Keyword(s):  
Genome Editing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Aav Vector ◽  
Type Ia

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

2004 ◽  
Vol 83 (3) ◽  
pp. 276-279 ◽  
Author(s):  
Celia J. Angaroni ◽  
Raquel Dodelson de Kremer ◽  
Carlos E. Argaraña ◽  
Ana E. Paschini-Capra ◽  
Alicia N. Giner-Ayala ◽  
...  
Keyword(s):  
Protein Stability ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

scholarly journals Glycogen storage disease type Ia: Linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism

2012 ◽  
Vol 6 (6) ◽  
pp. 596-600 ◽  
Author(s):  
Sakine Sever ◽  
David A. Weinstein ◽  
Joseph I. Wolfsdorf ◽  
Reyhan Gedik ◽  
Ernst J. Schaefer
Keyword(s):  
Uric Acid ◽  
Lactic Acid ◽  
Glycogen Storage Disease ◽  
Acid Metabolism ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia
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