Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience-Reference-Cited by-同舟云学术

Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience

Published:2022-01-07 Issue:6 Volume:269 Page:3167-3174
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Kresojević Nikola^ORCID,Dobričić Valerija,Lukić Milica Ječmenica,Tomić Aleksandra,Petrović Igor,Dragašević Nataša,Perović Ivana,Marjanović Ana,Branković Marija,Janković Milena^ORCID,Novaković Ivana,Svetel Marina,Kostić Vladimir S.

Funder

Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-021-10918-7.pdf

Reference29 articles.

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2. Stenson PD, Ball EV, Mort M et al (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21(6):577–581. https://doi.org/10.1002/humu.10212

3. Patterson MC, Hendriksz CJ, Walterfang M et al (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 106(3):330–344. https://doi.org/10.1016/j.ymgme.2012.03.012

4. Chamova T, Kirov A, Guergueltcheva V et al (2016) Clinical spectrum and genetic variability in Bulgarian patients with Niemann-Pick disease type C. Eur Neurol 75(3–4):113–123. https://doi.org/10.1159/000444480

5. Mengel E, Klünemann HH, Lourenço CM et al (2013) Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 8:166. https://doi.org/10.1186/1750-1172-8-166

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