Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Pediatrics, Perinatology, and Child Health
Reference43 articles.
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2. NPC-db, a Niemann-Pick type C disease gene variation database;Runz;Hum Mutat,2008
3. Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature;Vanier;Neurochem Res,1999
4. Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen;Vanier,1983
5. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets;Wassif;Genet Med,2016
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1. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature;BMC Infectious Diseases;2024-01-30
2. Plasma neurofilament light chain is elevated in Niemann-Pick Type C but glial fibrillary acidic protein is not;2023-12-16
3. Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis;Animal Genetics;2023-12-12
4. Atypical findings: Atypical parkinsonian syndromes or Atypical parkinsonian syndromes look-alikes;Clinical Neurology and Neurosurgery;2023-10
5. Current advancements in therapy for Niemann-Pick disease: progress and pitfalls;Expert Opinion on Pharmacotherapy;2023-05-21
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