These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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]
5. Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them. Yılmaz BK; Çelik H J Clin Lipidol; 2024; 18(3):e452-e464. PubMed ID: 38461119 [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. 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]
10. Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives. Duell PB; Dutta R; Wolf A; Rosengrant H J Clin Lipidol; 2023; 17(5):700-703. PubMed ID: 37543441 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. Martini G; Mignarri A; Ruvio M; Valenti R; Franci B; Del Puppo M; Federico A; Nuti R; Dotti MT Calcif Tissue Int; 2013 Mar; 92(3):282-6. PubMed ID: 23212544 [TBL] [Abstract][Full Text] [Related]
13. Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. Koyama S; Okabe Y; Suzuki Y; Igari R; Sato H; Iseki C; Tanji K; Suzuki K; Ohta Y BMC Neurol; 2022 May; 22(1):193. PubMed ID: 35614401 [TBL] [Abstract][Full Text] [Related]
14. 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]