New variants in Spanish Niemann–Pick type c disease patients-Reference-Cited by-同舟云学术

New variants in Spanish Niemann–Pick type c disease patients

Published:2020-02-14 Issue:3 Volume:47 Page:2085-2095
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

López de Frutos Laura^ORCID,Cebolla Jorge J.^ORCID,Aldámiz-Echevarría Luis^ORCID,de la Vega Ángela,Stanescu Sinziana,Lahoz Carlos,Irún Pilar^ORCID,Giraldo Pilar

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-020-05308-7.pdf

Reference62 articles.

1. Lloyd-evans E, Morgan AJ, He X et al (2010) Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 14:1247–1256. https://doi.org/10.1038/nm.1876

2. Vanier MT, Gissen P, Bauer P et al (2016) Diagnostic tests for Niemann-Pick disease type C (NP-C): a critical review. Mol Genet Metab 118:244–254. https://doi.org/10.1016/j.ymgme.2016.06.004

3. Sitarska D, Ługowska A (2019) Laboratory diagnosis of the Niemann–Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism. Metab Brain Dis 34:1253–1260. https://doi.org/10.1007/s11011-019-00445-w

4. Vanier MT (2010) Niemann–Pick disease type C. Orphanet J Rare Dis 5:1–18. https://doi.org/10.1186/1750-1172-5-16

5. Hammond N, Munkacsi AB, Sturley SL (2019) The complexity of a monogenic neurodegenerative disease: more than two decades of therapeutic driven research into Niemann–Pick type C disease. Biochim Biophys Acta Mol Cell Biol Lipids 1864:1109–1123. https://doi.org/10.1016/j.bbalip.2019.04.002

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08

2. 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

3. Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial;Molecular Genetics and Metabolism;2022-12

4. Neonatal cholestasis and Niemann-pick type C disease: A literature review;Clinics and Research in Hepatology and Gastroenterology;2021-11

5. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease;International Journal of Molecular Sciences;2020-07-17