Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library
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Last updated 20 setembro 2024
Current concepts in the neuropathogenesis of mucolipidosis type IV - Boudewyn - 2019 - Journal of Neurochemistry - Wiley Online Library
Journal of Cellular Physiology, Cell Biology Journal
Current concepts in the neuropathogenesis of mucolipidosis type IV - Boudewyn - 2019 - Journal of Neurochemistry - Wiley Online Library
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts
IJMS, Free Full-Text
Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1
Current concepts in the neuropathogenesis of mucolipidosis type IV - Boudewyn - 2019 - Journal of Neurochemistry - Wiley Online Library
Niemann-Pick disease type C
A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1 - Li - 2023 - PROTEOMICS - Wiley Online Library
IJMS, Free Full-Text
The Resurrection of Phenotypic Drug Discovery
A novel strategy for delivering Niemann‐Pick type C2 proteins across the blood–brain barrier using the brain endothelial‐specific AAV‐BR1 virus - Rasmussen - 2023 - Journal of Neurochemistry - Wiley Online Library
IJMS, Free Full-Text
Impact of the Niemann–Pick c1 Gene Mutation on the Total Cellular Glycomics of CHO Cells
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