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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Degos, Bertrand, Nadjar, Yann, Amador, Maria del Mar, Lamari, Foudil, Sedel, Frédéric, Roze, Emmanuel, Couvert, Philippe, Mochel, Fanny
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Letter to the Editor
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833925/
https://ncbi.nlm.nih.gov/pubmed/27084087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0419-x
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