Pompe disease,or glycogen storage disease type II(GSD2),is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the acid alpha-glucosidase gene(GAA,MIM#606800).The lysosomal enzyme acid alphagl...Pompe disease,or glycogen storage disease type II(GSD2),is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the acid alpha-glucosidase gene(GAA,MIM#606800).The lysosomal enzyme acid alphaglucosidase(GAA)hydrolyses the 1,4 and 1,6 alpha-glycosidic chemical bonds to break down glycogen into glucose.展开更多
基金supported by funding from the Wetenschappelijk Fonds Willy Gepts of the UZ Brussel,Belgium.
文摘Pompe disease,or glycogen storage disease type II(GSD2),is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the acid alpha-glucosidase gene(GAA,MIM#606800).The lysosomal enzyme acid alphaglucosidase(GAA)hydrolyses the 1,4 and 1,6 alpha-glycosidic chemical bonds to break down glycogen into glucose.
