324 related articles for article (PubMed ID: 26156051)
1. Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Huidekoper HH; Vaz FM; Verrips A; Bosch AM
Eur J Pediatr; 2016 Jan; 175(1):143-6. PubMed ID: 26156051
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
Vaz FM; Bootsma AH; Kulik W; Verrips A; Wevers RA; Schielen PC; DeBarber AE; Huidekoper HH
J Lipid Res; 2017 May; 58(5):1002-1007. PubMed ID: 28314860
[TBL] [Abstract][Full Text] [Related]
4. Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.
Zaccai TCF; Hassin-Baer S; Kfir NC; Duell PB; Neerhof M; Sloma R; Roitman M; Kisanuki YY; Verrips A; DeBarber AE
Genet Med; 2024 May; 26(5):101086. PubMed ID: 38288684
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.
Weissfeld T; Ratliff J
J Clin Neurosci; 2018 Jul; 53():263-264. PubMed ID: 29731275
[TBL] [Abstract][Full Text] [Related]
7. Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Vaz FM; Jamal Y; Barto R; Gelb MH; DeBarber AE; Wevers RA; Nelen MR; Verrips A; Bootsma AH; Bouva MJ; Kleise N; van der Zee W; He T; Salomons GS; Huidekoper HH
Clin Chim Acta; 2023 Jan; 539():170-174. PubMed ID: 36529270
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.
Degrassi I; Amoruso C; Giordano G; Del Puppo M; Mignarri A; Dotti MT; Naturale M; Nebbia G
Front Pediatr; 2020; 8():382. PubMed ID: 32766184
[No Abstract] [Full Text] [Related]
10. Chenodeoxycholic Acid: An Update on Its Therapeutic Applications.
Fiorucci S; Distrutti E
Handb Exp Pharmacol; 2019; 256():265-282. PubMed ID: 31267167
[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. Enhanced susceptibility of LDL to oxidative modification in a CTX patient:- role of chenodeoxycholic acid in xanthoma formation.
Kinoshita M; Kawamura M; Fujita M; Hirota D; Suda T; Taki M; Kusano J; Takao K; Takenaka H; Kubota S; Teramoto T
J Atheroscler Thromb; 2004; 11(3):167-72. PubMed ID: 15256768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
Höflinger P; Hauser S; Yutuc E; Hengel H; Griffiths L; Radelfahr F; Howell OW; Wang Y; Connor SL; Duell PB; DeBarber AE; Martus P; Lütjohann D; Griffiths WJ; Schöls L
J Lipid Res; 2021; 62():100078. PubMed ID: 33891937
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
Mignarri A; Magni A; Del Puppo M; Gallus GN; Björkhem I; Federico A; Dotti MT
J Inherit Metab Dis; 2016 Jan; 39(1):75-83. PubMed ID: 26153518
[TBL] [Abstract][Full Text] [Related]
16. Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
Alhariri A; Hamilton K; Oza V; Cordoro K; Sobreira NL; Malloy M; Slavotinek A
Am J Med Genet A; 2017 Aug; 173(8):2275-2279. PubMed ID: 28590052
[TBL] [Abstract][Full Text] [Related]
17. Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
Catarino CB; Vollmar C; Küpper C; Seelos K; Gallenmüller C; Bartkiewicz J; Biskup S; Hörtnagel K; Klopstock T
J Neurol; 2018 Feb; 265(2):388-393. PubMed ID: 29260356
[TBL] [Abstract][Full Text] [Related]
18. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G; Steiner RD
J Inherit Metab Dis; 2017 Nov; 40(6):771-781. PubMed ID: 28980151
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [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]
[Next] [New Search]