Recommendations on the diagnosis and management of Niemann-Pick disease type C

“Mini-mental state”

Marshal F. Folstein, Susan E. Folstein, Paul R. McHugh · Journal of Psychiatric Research · 1975 · 86.9K citations

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

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He et al. · Nature Medicine · 2008 · 833 citations

Life Sciences, Biochemistry, Molecular Biology +16

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