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. Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1;Journal of Lipid Research;2024-08
2. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08
3. The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment;Diagnostics;2024-06-19
4. Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal;Acta Neuropsychiatrica;2024-03-27
5. 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
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