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Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis

Orvosi Hetilap
Volume/Issue:
Volume 155: Issue 21
DOI:
https://doi.org/10.1556/oh.2014.29887
Authors: Viktória Evelin Varga, Mónika Katkó, János Harangi, István Balogh, István Kapás, László Madar, Ildikó Seres, Mária Judit Molnár, György Paragh, G. Gábor Kovács, and Mariann Harangi

Cali, J. J., Hsieh, C. L., Francke, U., et al.: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J. Biol. Chem., 1991, 266 (12), 7779

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