Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C-Reference-Cited by-同舟云学术

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Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

Published:2016 Issue:3-4 Volume:75 Page:113-123
ISSN:0014-3022
Container-title:European Neurology
language:en
Short-container-title:Eur Neurol

Author:

Chamova Teodora,Kirov Andrey,Guergueltcheva Velina,Todorov Tihomir,Bojinova Veneta,Zhelyazkova Sashka,Samuel Jean,Radionova Melania,Sarafov Stayko,Cherninkova Sylvia,Krastev Stefan,Todorova Albena,Tournev Ivailo

Publisher

S. Karger AG

Subject

Neurology (clinical),Neurology

Cited by 9 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. Brain imaging in children with neonatal cholestatic liver disease: A systematic review;Acta Paediatrica;2024-02-26

3. 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

4. Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations;Hereditas;2022-01-27

5. Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience;Journal of Neurology;2022-01-07

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