High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Author:
Funder
Actelion Pharmaceuticals
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-020-10020-4.pdf
Reference17 articles.
1. Nadjar Y et al (2018) Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. Orphanet J Rare Dis 13(1):175
2. Vanier MT (2010) Niemann-Pick disease type C. Orphanet J Rare Dis 5(1):16
3. Pineda M, Walterfang M, Patterson MC (2018) Miglustat in Niemann-Pick disease type C patients: a review. Orphanet J Rare Dis 13(1):1–21
4. Romanello M et al (2016) Comprehensive evaluation of plasma 7-ketocholesterol and cholestan-3β,5α,6β-triol in an italian cohort of patients affected by Niemann-Pick disease due to NPC1 and SMPD1 mutations. Clin Chim Acta 455(3):39–45
5. Giese AK et al (2015) A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis 10(1):1–8
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