Late Presentation of Glycogen Storage Disease Type Ia and Iii in Children with Short Stature and Hepatomegaly*

2018 ◽  
Author(s):  
David Quackenbush ◽  
Justin Devito ◽  
Luigi Garibaldi ◽  
Melissa Buryk
Keyword(s):  
Short Stature ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Late Presentation ◽  
Glycogen Storage ◽  
Disease Type ◽  
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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