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Items: 1 to 20 of 360

1.
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report
Wei Zhao, Jie Han, Dingbo Tao, Hongliang Zheng
Medicine (Baltimore) 2024 Apr 26; 103(17): e37976. Published online 2024 Apr 26. doi: 10.1097/MD.0000000000037976
PMCID:
PMC11049754
AbstractArticlePDF–656K
2.
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India
Pavankumar Katragadda, Vikram V. Holla, Nitish Kamble, Jitender Saini, Ravi Yadav, Dr. Pramod Kumar Pal
Tremor Other Hyperkinet Mov (N Y) 2024; 14: 10. Published online 2024 Mar 6. doi: 10.5334/tohm.851
PMCID:
PMC10929277
AbstractArticlePDF–4.5M
3.
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene
Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir
Orphanet J Rare Dis. 2024; 19: 53. Published online 2024 Feb 9. doi: 10.1186/s13023-024-03082-4
PMCID:
PMC10858589
AbstractArticlePDF–2.8M
4.
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives
Robert D. Steiner, Andrea DeBarber, Austin Larson, Bobbi Blanchard, Shawn Laurie, Neel Odedara, Hollisa Rosengrant, Rana Dutta
Adv Ther. 2024; 41(2): 467–475. Published online 2023 Dec 19. doi: 10.1007/s12325-023-02687-8
PMCID:
PMC10838853
AbstractArticlePDF–195K
5.
The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis
Simon-Pierre Guay, Martine Paquette, Valérie Poulin, Alina Levtova, Alexis Baass, Sophie Bernard
JCEM Case Rep. 2024 Feb; 2(2): luae004. Published online 2024 Jan 19. doi: 10.1210/jcemcr/luae004
PMCID:
PMC10799294
AbstractArticlePDF–441K
6.
Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report
Chen-Xi Ling, Shu-Zhan Gao, Ri-Dong Li, Shu-Qing Gao, Yue Zhou, Xi-Jia Xu
World J Psychiatry. 2023 Nov 19; 13(11): 967–972. Published online 2023 Nov 19. doi: 10.5498/wjp.v13.i11.967
PMCID:
PMC10701218
AbstractArticlePDF–1.8M
7.
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis
Soumia Majait, Emma C. E. Meessen, Frederic Maxime Vaz, E. Marleen Kemper, Samuel van Nierop, Steven W. Olde Damink, Frank G. Schaap, Johannes A. Romijn, Max Nieuwdorp, Aad Verrips, Filip Krag Knop, Maarten R. Soeters
Nutrients. 2023 Nov; 15(21): 4625. Published online 2023 Oct 31. doi: 10.3390/nu15214625
PMCID:
PMC10648145
AbstractArticlePDF–1.0M
8.
Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients
Natalja Bouwhuis, Bart A. W. Jacobs, E. Marleen Kemper
Front Pharmacol. 2023; 14: 1264997. Published online 2023 Oct 17. doi: 10.3389/fphar.2023.1264997
PMCID:
PMC10616945
AbstractArticlePDF–718K
9.
Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report
Alyson M. Rich, Ema V. Karakoleva, James McInerney, Elana Farace, Sol De Jesus
Front Neurol. 2023; 14: 1243379. Published online 2023 Aug 30. doi: 10.3389/fneur.2023.1243379
PMCID:
PMC10498991
AbstractArticlePDF–646K
10.
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper
Clin Chim Acta. Author manuscript; available in PMC 2023 Jul 31.
Published in final edited form as: Clin Chim Acta. 2023 Jan 15; 539: 170–174. Published online 2022 Dec 16. doi: 10.1016/j.cca.2022.12.011
PMCID:
PMC10387442
AbstractArticlePDF–423K
11.
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review
Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto, Paulo Ribeiro Nóbrega
Brain Sci. 2023 Jul; 13(7): 979. Published online 2023 Jun 22. doi: 10.3390/brainsci13070979
PMCID:
PMC10377253
AbstractArticlePDF–1.6M
12.
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
Hamed Ghoshouni, Roham Sarmadian, Rana Irilouzadian, Habibe Nejad Biglari, Abolfazl Gilani
J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096231168109. Published online 2023 Apr 21. doi: 10.1177/23247096231168109
PMCID:
PMC10126670
AbstractArticlePDF–493K
13.
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients
Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li
Orphanet J Rare Dis. 2023; 18: 72. Published online 2023 Apr 6. doi: 10.1186/s13023-023-02666-w
PMCID:
PMC10080795
AbstractArticlePDF–5.7M
14.
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia
Min Young Chun, Nam Jin Heo, Sang Won Seo, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim
Front Neurol. 2023; 14: 1131888. Published online 2023 Mar 7. doi: 10.3389/fneur.2023.1131888
PMCID:
PMC10029355
AbstractArticlePDF–729K
15.
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson
Orphanet J Rare Dis. 2023; 18: 13. Published online 2023 Jan 17. doi: 10.1186/s13023-022-02578-1
PMCID:
PMC9843874
AbstractArticlePDF–1.8M
16.
Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation
Nivedhan Mahadevan, Varshini Thiruvadi, Paranthakan C, Rekha A, Magesh A
Cureus. 2023 Jan; 15(1): e33378. Published online 2023 Jan 5. doi: 10.7759/cureus.33378
PMCID:
PMC9821311
AbstractArticlePDF–1.3M
17.
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Front Neurol. 2022; 13: 1049850. Published online 2022 Dec 23. doi: 10.3389/fneur.2022.1049850
PMCID:
PMC9816572
AbstractArticlePDF–1.4M
18.
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Orphanet J Rare Dis. 2022; 17: 434. Published online 2022 Dec 13. doi: 10.1186/s13023-022-02591-4
PMCID:
PMC9749289
AbstractArticlePDF–928K
19.
Cerebrotendinous xanthomatosis and infertility: A case report
Narges Karimi, Zahra Amiri, Sima Naeini, Ali Asghar Okhovat
Clin Case Rep. 2022 Dec; 10(12): e6661. Published online 2022 Dec 2. doi: 10.1002/ccr3.6661
PMCID:
PMC9718918
AbstractArticlePDF–1.1M
20.
Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years
Jun-Jun Lee, Chiung-Chih Chang, Wen-Neng Chang
Biomed J. 2022 Oct; 45(5): 814–820. Published online 2021 Sep 20. doi: 10.1016/j.bj.2021.09.003
PMCID:
PMC9661509
AbstractArticlePDF–1.3M

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