טוען...
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...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2016
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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