351 related articles for article (PubMed ID: 27225395)
1. Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Di Taranto MD; Gelzo M; Giacobbe C; Gentile M; Marotta G; Savastano S; Dello Russo A; Fortunato G; Corso G
Metab Brain Dis; 2016 Oct; 31(5):1185-8. PubMed ID: 27225395
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. 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]
6. A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
Abdel-Hamid MS; Issa MY; Otaify GA; Zaki MS
Metab Brain Dis; 2017 Apr; 32(2):311-315. PubMed ID: 28229379
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Moghadasian MH
Clin Invest Med; 2004 Feb; 27(1):42-50. PubMed ID: 15061585
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Köroğlu M; Karakaplan M; Gündüz E; Kesriklioğlu B; Ergen E; Aslantürk O; Özdemir ZM
Orphanet J Rare Dis; 2024 Feb; 19(1):53. PubMed ID: 38336741
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN; Dotti MT; Federico A
Neurol Sci; 2006 Jun; 27(2):143-9. PubMed ID: 16816916
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.
Björkhem I; Hansson M
Biochem Biophys Res Commun; 2010 May; 396(1):46-9. PubMed ID: 20494109
[TBL] [Abstract][Full Text] [Related]
14. [Pathophysiology of cerebrotendinous xanthomatosis].
Koyama S; Kato T
Rinsho Shinkeigaku; 2016 Dec; 56(12):821-826. PubMed ID: 27840382
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. 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]
17. 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]
18. Cerebrotendinous xanthomatosis.
Björkhem I
Curr Opin Lipidol; 2013 Aug; 24(4):283-7. PubMed ID: 23759795
[TBL] [Abstract][Full Text] [Related]
19. [Cerebrotendinous xanthomatosis, a treatable metabolic disorder].
Heller R; Grau AJ; Schäbitz WR; Schwaninger M
Nervenarzt; 2002 Dec; 73(12):1160-6. PubMed ID: 12486565
[TBL] [Abstract][Full Text] [Related]
20. Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.
Hansson M; Olin M; Floren CH; von Bahr S; van't Hooft F; Meaney S; Eggertsen G; Björkhem I
J Intern Med; 2007 May; 261(5):504-10. PubMed ID: 17444890
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
