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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Spinal Cord Med
Egile Nagusiak: Abe, Ryuta, Sekijima, Yoshiki, Kinoshita, Tomomi, Yoshinaga, Tsuneaki, Koyama, Shingo, Kato, Takeo, Ikeda, Shu-ichi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Taylor & Francis 2016
Gaiak:
Case Reports
Sarrera elektronikoa: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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