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

Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with...

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Detalles Bibliográficos
Autores principales: Degos, Bertrand, Nadjar, Yann, Amador, Maria del Mar, Lamari, Foudil, Sedel, Frédéric, Roze, Emmanuel, Couvert, Philippe, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833925/
https://www.ncbi.nlm.nih.gov/pubmed/27084087
http://dx.doi.org/10.1186/s13023-016-0419-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833925/
https://www.ncbi.nlm.nih.gov/pubmed/27084087
http://dx.doi.org/10.1186/s13023-016-0419-x

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