Gaucher disease （GD） is a lysosomal storage disorder （LSD） affecting approximately 1 in 50,000 individuals in the general population. Mutations in both alleles of the GBA1 gene result in deficient glucocerebrosida...Gaucher disease （GD） is a lysosomal storage disorder （LSD） affecting approximately 1 in 50,000 individuals in the general population. Mutations in both alleles of the GBA1 gene result in deficient glucocerebrosidase （GCase） activity, which in turn leads to the accumulation of glycolipid substrates and impaired lysosomal function. GD is a multisystern disorder with a vast spectrum of clinical phenotvpes,展开更多
基金supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Institutes of Health
文摘Gaucher disease （GD） is a lysosomal storage disorder （LSD） affecting approximately 1 in 50,000 individuals in the general population. Mutations in both alleles of the GBA1 gene result in deficient glucocerebrosidase （GCase） activity, which in turn leads to the accumulation of glycolipid substrates and impaired lysosomal function. GD is a multisystern disorder with a vast spectrum of clinical phenotvpes,
