June 03, 2010 article Open access Niemann-Pick disease type C Orphanet Journal of Rare Diseases DOI: 10.1186/1750-1172-5-16 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 4 stored of 1,245 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Navigating Solute Carrier Transporters—A Comprehensive Review of Functionalized Small Molecule Probes for Target Identification and Characterization 2025 Medicinal Research Reviews article Medicine Drug Transport and Resistance Mechanisms Open access 2 citations Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases 2023 Chemical Science article Medicine Lysosomal Storage Disorders Research Open access 12 citations GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice 2021 International Journal of Molecular Sciences article Medicine Lysosomal Storage Disorders Research Open access 36 citations Identification of a Novel Link between the Intermediate Filament Organizer IFO-1 and Cholesterol Metabolism in the Caenorhabditis elegans Intestine 2020 International Journal of Molecular Sciences article Medicine Cholesterol and Lipid Metabolism Open access 8 citations 4 results References 0