MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia

1996 ◽  
Vol 16 (4) ◽  
pp. 333-336 ◽  
Author(s):  
YONG QU ◽  
JOSE E. ABDENUR ◽  
CHRISTINE M. ENG ◽  
ROBERT J. DESNICK
Keyword(s):  
Prenatal Diagnosis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
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

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
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