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8. Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. Mandia D; Chaussenot A; Besson G; Lamari F; Castelnovo G; Curot J; Duval F; Giral P; Lecerf JM; Roland D; Pierdet H; Douillard C; Nadjar Y J Neurol; 2019 Aug; 266(8):2043-2050. PubMed ID: 31115677 [TBL] [Abstract][Full Text] [Related]
9. Cerebrotendinous xanthomatosis without neurological involvement. Stelten BML; Raal FJ; Marais AD; Riksen NP; Roeters van Lennep JE; Duell PB; van der Graaf M; Kluijtmans LAJ; Wevers RA; Verrips A J Intern Med; 2021 Nov; 290(5):1039-1047. PubMed ID: 33830582 [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]
11. 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]
12. 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]
13. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Verrips A; van Engelen BG; Wevers RA; van Geel BM; Cruysberg JR; van den Heuvel LP; Keyser A; Gabreëls FJ Arch Neurol; 2000 Apr; 57(4):520-4. PubMed ID: 10768627 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
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20. A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. Gelzo M; Di Taranto MD; Bisecco A; D'Amico A; Capuano R; Giacobbe C; Caputo M; Cirillo M; Tedeschi G; Fortunato G; Corso G Acta Neurol Belg; 2021 Apr; 121(2):561-566. PubMed ID: 31875301 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]