Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

The metabolic and molecular bases of inherited disease

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

Life Sciences, Genetics, Molecular Genetics +14

J Neuropsychiatry Clin Neurosci

Stuart C. Yudofsky, Robert E. Hales · Journal of Neuropsychiatry · 1992 · 3.8K citations

Life Sciences, Neuroscience, Psychiatry +9

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland et al. · Science · 2000 · 829 citations

Life Sciences, Genetics, Molecular Genetics +17

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