scholarly journals Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)

2021 ◽  
Author(s):  
Matthias Christen ◽  
Wencke Reineking ◽  
Andreas Beineke ◽  
Vidhya Jagannathan ◽  
Wolfgang Baumgärtner ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

Rapid detection of glycogen storage disease type Ia by DNA microarray

2010 ◽  
Vol 48 (9) ◽  
Author(s):  
Shanshan Xu ◽  
Shengying Qin ◽  
Xuefan Gu ◽  
Wenjuan Qiu ◽  
Jun Ye ◽  
...  
Keyword(s):  
Dna Microarray ◽  
Glycogen Storage Disease ◽  
Rapid Detection ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

P1214 : Diet highly influences the development of hepatocellular adenomas and carcinomas in mice with glycogen storage disease type IA

2015 ◽  
Vol 62 ◽  
pp. S812
Author(s):  
J. Clar ◽  
M. Raffin ◽  
S. Gaillard ◽  
O. Beuf ◽  
G. Mithieux ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia ◽  
Hepatocellular Adenomas

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia

1999 ◽  
Vol 22 (6) ◽  
pp. 723-732 ◽  
Author(s):  
L. Faivre ◽  
D. Houssin ◽  
J. Valayer ◽  
J. Brouard ◽  
M. Hadchouel ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Type Ia

Successful treatment of diabetes associated with glycogen storage disease type Ia

2020 ◽  
Author(s):  
X. Yuan ◽  
W. Ma ◽  
X. Wu ◽  
X. Xing ◽  
Y. Li ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Successful Treatment ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia ◽  
Treatment Of Diabetes

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

Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene

2007 ◽  
Vol 27 (7) ◽  
pp. 685-686 ◽  
Author(s):  
Dong-Zhi Li ◽  
Can Liao ◽  
Xue-Wei Tang
Keyword(s):  
Prenatal Diagnosis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
New Mutation ◽  
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

Perioperative Management of Patients with Glycogen Storage Disease Type Ia

2008 ◽  
Vol 122 (1) ◽  
pp. 42e-43e ◽  
Author(s):  
Justin Lipper ◽  
David A. Weinstein ◽  
Peter J. Taub
Keyword(s):  
Glycogen Storage Disease ◽  
Perioperative Management ◽  
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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