Niemann-Pick disease type C as a neurovisceral disease. Schematic
Por um escritor misterioso
Last updated 22 outubro 2024
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts
Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
Niemann-Pick Disease, Type C1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
IJMS, Free Full-Text
Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage. - Abstract - Europe PMC
Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
Full article: Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
PDF) Niemann–Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families☆
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
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