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

scholarly journals New mutation (S298P) in a patient with glycogen storage disease type IA

1998 ◽  
Vol 11 (S1) ◽  
pp. S329-S329 ◽  
Author(s):  
Marina Stroppiano ◽  
Raffaella Mazzotti ◽  
Stefano Regis ◽  
Rosanna Gatti
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
New Mutation ◽  
Type Ia

Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion

1998 ◽  
Vol 18 (6) ◽  
pp. 629-631 ◽  
Author(s):  
Pascale Trioche ◽  
Jeanne Francoual ◽  
François Audibert ◽  
Jacqueline Chalas ◽  
Albert Lindenbaum ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glycogen Storage Disease ◽  
Restriction Enzyme ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Enzyme Digestion ◽  
Restriction Enzyme Digestion ◽  
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
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