194 related articles for article (PubMed ID: 31706903)
1. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.
Lee CW; Lee JJ; Lee YF; Wang PW; Pan TL; Chang WN; Tsai MH
J Clin Lipidol; 2019; 13(6):954-959.e1. PubMed ID: 31706903
[TBL] [Abstract][Full Text] [Related]
2. Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
Chen C; Zhang Y; Wu H; Sun YM; Cai YH; Wu JJ; Wang J; Gong LY; Ding ZT
Metab Brain Dis; 2017 Oct; 32(5):1609-1618. PubMed ID: 28623566
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.
Rashvand Z; Kahrizi K; Najmabadi H; Najafipour R; Omrani MD
Iran Biomed J; 2021 Mar; 25(2):132-9. PubMed ID: 33400472
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.
Tang Y; Liu Y; Li D; Guo D; Xing Y
Int J Neurosci; 2020 Oct; 130(10):972-975. PubMed ID: 31914338
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Clinical and genetics characteristics of adult-onset cerebrotendinous xanthomatosis: analysis of a Chinese pedigree].
Zhao B; Wang ZW; Zhang YM; Yu YX; Yao S; Zhao JJ; Li H; Liang L; Pan SY; Qian HR
Zhonghua Nei Ke Za Zhi; 2023 Apr; 62(4):401-409. PubMed ID: 37032135
[No Abstract] [Full Text] [Related]
10. Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
Nozue T; Higashikata T; Inazu A; Kawashiri MA; Nohara A; Kobayashi J; Koizumi J; Yamagishi M; Mabuchi H
Intern Med; 2010; 49(12):1127-31. PubMed ID: 20558929
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ; Zhang Y; Lin HX; Dong HL; Ni W; Wu ZY
Orphanet J Rare Dis; 2019 Dec; 14(1):282. PubMed ID: 31796091
[TBL] [Abstract][Full Text] [Related]
12. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Zubarioglu T; Kıykım E; Köse E; Eminoğlu FT; Teke Kısa P; Balcı MC; Özer I; İnci A; Çilesiz K; Canda E; Yazıcı H; Öztürk-Hişmi B; Bulut FD; Dorum S; Akgun A; Yalçın-Çakmaklı G; Kılıç-Yıldırım G; Soyuçen E; Akçalı A; Güneş D; Durmuş A; Gündüz A; Kasapkara ÇS; Göksoy E; Akar HT; Ersoy M; Erdöl Ş; Yıldız Y; Hanağası HA; Arslan N; Aktuğlu-Zeybek Ç
Mol Genet Metab; 2024 Jun; 142(2):108493. PubMed ID: 38772327
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Four novel CYP27A1 mutations in seven Italian patients with CTX.
Gallus GN; Dotti MT; Mignarri A; Rufa A; Da Pozzo P; Cardaioli E; Federico A
Eur J Neurol; 2010 Oct; 17(10):1259-62. PubMed ID: 20402754
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
Mignarri A; Gallus GN; Dotti MT; Federico A
J Inherit Metab Dis; 2014 May; 37(3):421-9. PubMed ID: 24442603
[TBL] [Abstract][Full Text] [Related]
17. Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea.
Kim S; Park JS; Lee JH; Shin HY; Yang HJ; Shin JH
Neurocase; 2022 Dec; 28(6):477-482. PubMed ID: 36803198
[TBL] [Abstract][Full Text] [Related]
18. 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.
Tian D; Zhang ZQ
BMC Neurol; 2011 Oct; 11():130. PubMed ID: 22018287
[TBL] [Abstract][Full Text] [Related]
19. 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]
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]