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Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion
CONTEXT: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited lipid storage disease caused by mutation in the CYP27A1 gene. Spinal form CTX is a rare clinical subgroup of CTX and only 14 patients from 11 families have been reported to date. Here, we report the first Asian patie...
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| Publicado no: | J Spinal Cord Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Taylor & Francis
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5137569/ https://ncbi.nlm.nih.gov/pubmed/25941960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1179/1079026815Z.000000000409 |
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