Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

The LDL Receptor

(2009) Joseph L. Goldstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Cholesterol Exposure at the Membrane Surface Is Necessary and Sufficient to Trigger Perfringolysin O Binding

(2009) John J. Flanagan et al.   BIOCHEMISTRY

Sphingomyelin-rich domains are sites of lysenin oligomerization: Implications for raft studies

(2009) Magdalena Kulma et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

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

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM