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7. Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. Björkhem I; Leitersdorf E Trends Endocrinol Metab; 2000 Jul; 11(5):180-3. PubMed ID: 10856919 [TBL] [Abstract][Full Text] [Related]
8. The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. Szlago M; Gallus GN; Schenone A; Patiño ME; Sfaelo Z; Rufa A; Da Pozzo P; Cardaioli E; Dotti MT; Federico A Neurology; 2008 Jan; 70(5):402-4. PubMed ID: 18227423 [No Abstract] [Full Text] [Related]
9. Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? Siman-Tov T; Meiner V; Gadoth N J Neurol Sci; 2006 Apr; 243(1-2):83-6. PubMed ID: 16445943 [TBL] [Abstract][Full Text] [Related]
10. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Appadurai V; DeBarber A; Chiang PW; Patel SB; Steiner RD; Tyler C; Bonnen PE Mol Genet Metab; 2015 Dec; 116(4):298-304. PubMed ID: 26643207 [TBL] [Abstract][Full Text] [Related]
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12. Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. Sasamura A; Akazawa S; Haraguchi A; Horie I; Ando T; Abiru N; Takei H; Nittono H; Une M; Kurosawa T; Murai T; Naruse H; Nakayama T; Kotani K; Remaley AT; Kawakami A Intern Med; 2018 Jun; 57(11):1611-1616. PubMed ID: 29434128 [TBL] [Abstract][Full Text] [Related]
13. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). von Bahr S; Movin T; Papadogiannakis N; Pikuleva I; Rönnow P; Diczfalusy U; Björkhem I Arterioscler Thromb Vasc Biol; 2002 Jul; 22(7):1129-35. PubMed ID: 12117727 [TBL] [Abstract][Full Text] [Related]
14. Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum. Mast N; Anderson KW; Lin JB; Li Y; Turko IV; Tatsuoka C; Bjorkhem I; Pikuleva IA J Biol Chem; 2017 Mar; 292(12):4913-4924. PubMed ID: 28190002 [TBL] [Abstract][Full Text] [Related]
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17. Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis. Bartholdi D; Zumsteg D; Verrips A; Wevers RA; Sistermans E; Hess K; Jung HH J Neurol; 2004 Jan; 251(1):105-7. PubMed ID: 14999499 [No Abstract] [Full Text] [Related]
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19. Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. Di Taranto MD; Gelzo M; Giacobbe C; Gentile M; Marotta G; Savastano S; Dello Russo A; Fortunato G; Corso G Metab Brain Dis; 2016 Oct; 31(5):1185-8. PubMed ID: 27225395 [TBL] [Abstract][Full Text] [Related]
20. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Björkhem I; Hansson M Biochem Biophys Res Commun; 2010 May; 396(1):46-9. PubMed ID: 20494109 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]