Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report-Reference-Cited by-同舟云学术

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

Published:2016-09-06 Issue:1 Volume:10 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Cuisset Jean-Marie,Sukno S.,Trauffler A.,Latour P.,Dobbelaere D.,Michaud L.,Vallée L.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13256-016-1038-9.pdf

Reference15 articles.

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2. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.

3. Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, Luzy C, Giorgino R, Sedel F. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98:250–4.

4. Sevin C, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–33.

5. Skorpen J, Helland IB, Tennoe B. Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep. 2012;6:383.

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4. Neurodegeneration in Niemann–Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment;International Journal of Molecular Sciences;2021-06-20

5. Miglustat in Niemann-Pick disease type C patients: a review;Orphanet Journal of Rare Diseases;2018-08-15