Gaucher Disease-Associated Glucocerebrosidases Show Mutation-Dependent Chemical Chaperoning Profiles

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 744 citations

Medicine, Pharmacology, Pharmacotherapy +4

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

Jianqiang Fan, Naoki Asano, Yoshiyuki Suzuki · Nature Medicine · 1999 · 613 citations

Life Sciences, Biochemistry, Molecular Biology +14

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J. Weinreb, Joel Charrow, Hans C. Andersson et al. · The American Journal of Medicine · 2002 · 541 citations

Life Sciences, Genetics, Pharmacotherapy +9

Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease

Anu R. Sawkar, Wei‐Chieh Cheng, Ernest Beutler et al. · Proceedings of the National Academy of Sciences · 2002 · 503 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders

Ernst Conzelmann, Konrad Sandhoff · Developmental Neuroscience · 2007 · 275 citations

Life Sciences, Biochemistry, Neurology +12