An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family-Reference-Cited by-同舟云学术

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

Published:2016-08-22 Issue:1 Volume:16 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Cervera-Gaviria Marivi,Alcántara-Ortigoza Miguel Angel,González-del Angel Ariadna,Moyers-Pérez Paola,Legorreta-Ramírez Blanca Gabriela Lizet,Barrera-Carmona Nancy,Cervera-Gaviria Jaime

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12883-016-0649-5.pdf

Reference17 articles.

1. Patterson MC, Hendriksz CJ, Warterfang M, Sedel F, Vanier MT, Wijburg F. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab. 2012;16:330–44.

2. Patterson MC, Mengel E, Wijburg FA, Muller A, Schiwierin B, Drevon H, Vanier MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.

3. Ory DS. The Niemann-Pick disease genes; regulators of cellular cholesterol homeostasis. Trends Cardicovasc Med. 2004;14:66–72.

4. Vanier MT, Latour P. Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. Methods Cell Biol. 2015;126:357–75.

5. Meiner V, Shpitzen S, Mandel H. Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet Med. 2001;3:343–8.

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. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07

4. Germline mosaicism in a collagen VI ‐related myopathy family: A cause of autosomal recessive inheritance;Congenital Anomalies;2021-04-13

5. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease;Current Medical Research and Opinion;2017-03-02