Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

Ebrahim, Hatim Y

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). [electronic resource] - Journal of inherited metabolic disease Mar 2012 - 325-34 p. digital

Publication Type: Journal Article

1573-2665

10.1007/s10545-011-9395-4 doi


Case-Control Studies
Cell Line
Fabry Disease--enzymology
Female
Glycogen Storage Disease Type II--enzymology
HEK293 Cells
Humans
Lysosomes--genetics
Male
Mutagenesis, Site-Directed--methods
Mutation, Missense
Transfection--methods
alpha-Galactosidase--genetics
alpha-Glucosidases--genetics