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5. [Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. Varga VE; Katkó M; Harangi J; Balogh I; Kapás I; Madar L; Seres I; Molnár MJ; Paragh G; Kovács GG; Harangi M Orv Hetil; 2014 May; 155(21):811-6. PubMed ID: 24836315 [TBL] [Abstract][Full Text] [Related]
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10. Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis. Clarenbach JJ; Lindenthal B; Dotti MT; Federico A; Kelleher JK; von Bergmann K Metabolism; 2005 Mar; 54(3):335-44. PubMed ID: 15736111 [TBL] [Abstract][Full Text] [Related]
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20. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. Lamon-Fava S; Schaefer EJ; Garuti R; Salen G; Calandra S Clin Genet; 2002 Mar; 61(3):185-91. PubMed ID: 12000359 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]