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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Orphanet J Rare Dis |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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