Critical role for glycosphingolipids in Niemann-Pick disease type
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Last updated 13 novembro 2024
The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele
Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. - Abstract - Europe PMC
Full article: New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect
Finding a Breakthrough for Tucker and the World - The Children's Inn at NIH
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
Characterization of Glycosphingolipids and Their Diverse Lipid Forms through Two-Stage Matching of LC-MS/MS Spectra
Interstitial lung disease in lysosomal storage disorders
Advancements in Niemann-Pick Disease Type C Treatments
Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
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