スポンサーリンク
Department of Human Genetics, Mount Sinai School of Medicine | 論文
- Acid Sphingomyelinase : Relation of ^Lysine Residue on the Ratio of Intracellular to Secreted Enzyme Activity
- Identification and Expression of a Missense Mutation (Y446C) in the Acid Sphingomyelinase Gene from a Japanese Patient with Type A Niemann-Pick Disease
- Comparative Effects of Recombinant Acid Sphingomyelinase Administration by Different Routes in Niemann-Pick Disease Mice
- Gene therapy for genetic diseases
- Fabry disease : twenty novel α-galactosidase A mutations causing the classical phenotype