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4. Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. Amador MDM; Masingue M; Debs R; Lamari F; Perlbarg V; Roze E; Degos B; Mochel F J Inherit Metab Dis; 2018 Sep; 41(5):799-807. PubMed ID: 29560583 [TBL] [Abstract][Full Text] [Related]
5. Treatment and follow-up of children with cerebrotendinous xanthomatosis. van Heijst AF; Verrips A; Wevers RA; Cruysberg JR; Renier WO; Tolboom JJ Eur J Pediatr; 1998 Apr; 157(4):313-6. PubMed ID: 9578968 [TBL] [Abstract][Full Text] [Related]
6. [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]
7. Cerebrotendinous xanthomatosis in three siblings from a Chinese family. Ko KF; Lee KW Singapore Med J; 2001 Jan; 42(1):30-2. PubMed ID: 11361235 [TBL] [Abstract][Full Text] [Related]
8. [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]
9. [Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment]. Blaabjerg M; Marjanovic D Ugeskr Laeger; 2013 Jan; 175(5):285-6. PubMed ID: 23369332 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder]. Delstanche S; Deflandre T; Otto B; Tshibanda L; Simoni P; Moonen G Rev Med Liege; 2013 Apr; 68(4):171-6. PubMed ID: 23755706 [TBL] [Abstract][Full Text] [Related]
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15. Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Stelten BML; Bonnot O; Huidekoper HH; van Spronsen FJ; van Hasselt PM; Kluijtmans LAJ; Wevers RA; Verrips A J Inherit Metab Dis; 2018 Jul; 41(4):641-646. PubMed ID: 28894950 [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. Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. Yoshinaga T; Sekijima Y; Koyama S; Maruyama K; Yoshida T; Kato T; Ikeda S Intern Med; 2014; 53(23):2725-9. PubMed ID: 25447658 [TBL] [Abstract][Full Text] [Related]
18. Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. Tibrewal S; Duell PB; DeBarber AE; Loh AR J AAPOS; 2017 Dec; 21(6):505-507. PubMed ID: 29079218 [TBL] [Abstract][Full Text] [Related]
19. The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. Verrips A; Dotti MT; Mignarri A; Stelten BML; Verma S; Federico A Neurol Sci; 2020 Apr; 41(4):943-949. PubMed ID: 31863326 [TBL] [Abstract][Full Text] [Related]
20. Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Monson DM; DeBarber AE; Bock CJ; Anadiotis G; Merkens LS; Steiner RD; Stout AU Arch Ophthalmol; 2011 Aug; 129(8):1087-8. PubMed ID: 21825196 [No Abstract] [Full Text] [Related] [Next] [New Search]