Brady Ro

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Brady Ro, J. N. Kanfer, Michael B. Mock et al. · Proceedings of the National Academy of Sciences · 1966 · 423 citations · Full text

Biochemistry, Excessive Quantities, Medicine +9

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

Peter G. Pentchev, Andrew E. Gal, A. D. Booth et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1980 · 185 citations

Dual Deficiency, Lysosomal Storage Disorder, Biochemistry +6

Clinical spectrum of Niemann‐Pick disease type C

John K. Fink, Michele R. Filling‐Katz, Joshua W Sokol et al. · Neurology · 1989 · 159 citations

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease

Marc C. Patterson, Mia Horowitz, R. B. Abel et al. · Neurology · 1993 · 139 citations

Type 1, Neurodegenerative Diseases, Ophthalmology +13

The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C

Marc C. Patterson, Adrian M. Di Bisceglie, James J. Higgins et al. · Neurology · 1993 · 107 citations