Concepedia

Screening for pharmacological chaperones in Fabry disease

Sanghoon Shin, Gary J. Murray, Stefanie Kluepfel-Stahl, Adele Cooney, Jane M. Quirk, Raphael Schiffmann, Roscoe O. Brady, Christine R. Kaneski

Biochemical and Biophysical Research Communications · 2007 · 53 citations · 18 references

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18

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

Enzymatic Defect in Fabry's Disease

Roscoe O. Brady, Andrew E. Gal, Roy M. Bradley et al. · New England Journal of Medicine · 1967 · 1.1K citations

, , +12

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

, , +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

, , +14

α-Galactosidase A deficiency. Fabry disease

R J Desnick · Medical Entomology and Zoology · 2001 · 581 citations

, , +5