Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review-Reference-Cited by-同舟云学术

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Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review

Published:2019-01-11 Issue:3 Volume:18 Page:659-664
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Ahn Jong Hyeon,Kim Ah Reum,Lee Chung,Kim Nayoung K. D.,Kim Nam-Soon,Park Woong-Yang,Kim Minkyeong,Youn Jinyoung,Cho Jin Whan,Kim Ji Sun

Funder

Korea Research Institute of Bioscience and Biotechnology

National Research Foundation of Korea

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s12311-019-1005-2.pdf

Reference23 articles.

1. Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev. 1996;10(24):3156–69.

2. Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, et al. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet. 1997;15(3):316–20. https://doi.org/10.1038/ng0397-316 .

3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30 .

4. Naganawa Y, Itoh K, Shimmoto M, Takiguchi K, Doi H, Nishizawa Y, et al. Molecular and structural studies of Japanese patients with sialidosis type 1. J Hum Genet. 2000;45(4):241–9. https://doi.org/10.1007/s100380070034.

5. Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. 2000;9(18):2715–25. https://doi.org/10.1093/hmg/9.18.2715 .

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