Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood-Reference-Cited by-同舟云学术

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Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

Published:2016-04-16 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Degos Bertrand,Nadjar Yann,Amador Maria del Mar,Lamari Foudil,Sedel Frédéric,Roze Emmanuel,Couvert Philippe,Mochel Fanny

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0419-x

Reference11 articles.

1. Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis and therapy. J Child Neurol. 2003;18:633–8.

2. Verrips A, Hoefsloot LH, Steenbergen GCH, Theelen JP, Wevers RA, Gabreëls FJ, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000;123:908–9.

3. Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005;62(9):1459–63.

4. Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9:179.

5. Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, et al. Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov Disord. 2012;27(14):1805–10.

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