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.
159 related articles for article (PubMed ID: 35633129)
1. Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure. Pietrobattista A; Spada M; Candusso M; Boenzi S; Dionisi-Vici C; Francalanci P; Morrone A; Ferri L; Indolfi G; Agolini E; Giordano G; Monti L; Maggiore G; Knisely AS Pediatr Transplant; 2022 Sep; 26(6):e14318. PubMed ID: 35633129 [TBL] [Abstract][Full Text] [Related]
2. Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. Gong JY; Setchell KDR; Zhao J; Zhang W; Wolfe B; Lu Y; Lackner K; Knisely AS; Wang NL; Hao CZ; Zhang MH; Wang JS J Pediatr Gastroenterol Nutr; 2017 Nov; 65(5):561-568. PubMed ID: 28937538 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling. Claesen JLA; Koomen E; Schene IF; Jans JJM; Mast N; Pikuleva IA; van der Ham M; de Sain-van der Velden MGM; Fuchs SA J Inherit Metab Dis; 2020 Jul; 43(4):843-851. PubMed ID: 31990370 [TBL] [Abstract][Full Text] [Related]
5. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols. DeBarber AE; Schaefer EJ; Do J; Ray JW; Larson A; Redder S; Fowler M; Duell PB J Clin Lipidol; 2024; 18(3):e465-e476. PubMed ID: 38637260 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants. Zhang P; Zhao J; Peng XM; Qian YY; Zhao XM; Zhou WH; Wang JS; Wu BB; Wang HJ J Clin Lipidol; 2021; 15(1):116-123. PubMed ID: 33414089 [TBL] [Abstract][Full Text] [Related]
8. A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene. Stenos C; Kalafatakis K; Constantoulakis P; Zekiou K; Margoni A; Kardara P; Terentiou A; Stouraitis G; Nikolaou G J Clin Lipidol; 2022; 16(3):281-285. PubMed ID: 35428606 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene. Ghoshouni H; Sarmadian R; Irilouzadian R; Biglari HN; Gilani A J Investig Med High Impact Case Rep; 2023; 11():23247096231168109. PubMed ID: 37083278 [TBL] [Abstract][Full Text] [Related]
11. Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments. Koyama S; Sekijima Y; Ogura M; Hori M; Matsuki K; Miida T; Harada-Shiba M J Atheroscler Thromb; 2021 Sep; 28(9):905-925. PubMed ID: 33967188 [TBL] [Abstract][Full Text] [Related]
12. Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. Pierre G; Setchell K; Blyth J; Preece MA; Chakrapani A; McKiernan P J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S241-5. PubMed ID: 19125350 [TBL] [Abstract][Full Text] [Related]
13. A useful multi-analyte blood test for cerebrotendinous xanthomatosis. DeBarber AE; Luo J; Giugliani R; Souza CF; Chiang JP; Merkens LS; Pappu AS; Steiner RD Clin Biochem; 2014 Jun; 47(9):860-3. PubMed ID: 24769274 [TBL] [Abstract][Full Text] [Related]
14. Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Fernández-Eulate G; Martin GC; Dureau P; Speeg-Spatz C; Brassier A; Gillard P; Bremond-Gignac D; Thouvenin D; Pagan C; Lamari F; Nadjar Y Orphanet J Rare Dis; 2022 Dec; 17(1):434. PubMed ID: 36514115 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Nie S; Chen G; Cao X; Zhang Y Orphanet J Rare Dis; 2014 Nov; 9():179. PubMed ID: 25424010 [TBL] [Abstract][Full Text] [Related]
17. [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]
18. 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]
19. [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]
20. Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. von Bahr S; Björkhem I; Van't Hooft F; Alvelius G; Nemeth A; Sjövall J; Fischler B J Pediatr Gastroenterol Nutr; 2005 Apr; 40(4):481-6. PubMed ID: 15795599 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]