420 related articles for article (PubMed ID: 24836315)
1. [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]
2. Cerebrotendinous xanthomatosis.
Björkhem I
Curr Opin Lipidol; 2013 Aug; 24(4):283-7. PubMed ID: 23759795
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].
Preiss Y; Santos JL; Smalley SV; Maiz A
Rev Med Chil; 2014 May; 142(5):616-22. PubMed ID: 25427019
[TBL] [Abstract][Full Text] [Related]
5. [Cerebrotendinous xanthomatosis, a treatable metabolic disorder].
Heller R; Grau AJ; Schäbitz WR; Schwaninger M
Nervenarzt; 2002 Dec; 73(12):1160-6. PubMed ID: 12486565
[TBL] [Abstract][Full Text] [Related]
6. [Pathophysiology of cerebrotendinous xanthomatosis].
Koyama S; Kato T
Rinsho Shinkeigaku; 2016 Dec; 56(12):821-826. PubMed ID: 27840382
[TBL] [Abstract][Full Text] [Related]
7. A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.
Takahashi M; Okazaki H; Tada H; Ishibashi S
J Clin Lipidol; 2023; 17(6):834-838. PubMed ID: 37777472
[TBL] [Abstract][Full Text] [Related]
8. Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.
Keren Z; Falik-Zaccai TC
Pediatr Endocrinol Rev; 2009 Sep; 7(1):6-11. PubMed ID: 19696711
[TBL] [Abstract][Full Text] [Related]
9. [Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
Lionnet C; Carra C; Ayrignac X; Levade T; Gayraud D; Castelnovo G; Besson G; Androdias G; Vukusic S; Confavreux C; Zaenker C; De Seze J; Collongues N; Blanc F; Tranchant C; Wallon D; Hannequin D; Gerdelat-Mas A; Brassat D; Clanet M; Zephir H; Outteryck O; Vermersch P; Labauge P
Rev Neurol (Paris); 2014; 170(6-7):445-53. PubMed ID: 24746394
[TBL] [Abstract][Full Text] [Related]
10. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Moghadasian MH
Clin Invest Med; 2004 Feb; 27(1):42-50. PubMed ID: 15061585
[TBL] [Abstract][Full Text] [Related]
11. The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.
Rosafio F; Cavallieri F; Guaraldi P; Taroni F; Nichelli PF; Mandrioli J
Clin Neurol Neurosurg; 2016 Apr; 143():1-3. PubMed ID: 26874936
[TBL] [Abstract][Full Text] [Related]
12. Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
Mandrile G; Gallus GN; Mura G; Di Sapio A; Sotgiu MA; Montella A; Giachino DF; Dotti MT; Ulgheri L; Federico A
Neurol Sci; 2014 Aug; 35(8):1303-5. PubMed ID: 24584636
[No Abstract] [Full Text] [Related]
13. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
Suh S; Kim HK; Park HD; Ki CS; Kim MY; Jin SM; Kim SW; Hur KY; Kim KW; Kim JH
Eur J Med Genet; 2012 Jan; 55(1):71-4. PubMed ID: 21958693
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Takasone K; Morizumi T; Nakamura K; Mochizuki Y; Yoshinaga T; Koyama S; Sekijima Y
Intern Med; 2020 Oct; 59(20):2587-2591. PubMed ID: 32581172
[TBL] [Abstract][Full Text] [Related]
16. [Cerebrotendinous xanthomatosis. Report of one case].
Contreras JP; Guajardo G; Martínez A; López I; Cea G
Rev Med Chil; 2019 May; 147(5):658-662. PubMed ID: 31859899
[TBL] [Abstract][Full Text] [Related]
17. [Cerebrotendinous xanthomatosis].
Burghaus L; Liu W; Haupt WF
Dtsch Med Wochenschr; 2007 Jul; 132(27):1463-6. PubMed ID: 17583829
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]