Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to identify metabolic aberrations that drive ong...

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Detalles Bibliográficos
Autores principales: Höflinger, Philip, Hauser, Stefan, Yutuc, Eylan, Hengel, Holger, Griffiths, Lauren, Radelfahr, Florentine, Howell, Owain W., Wang, Yuqin, Connor, Sonja L., Duell, P. Barton, DeBarber, Andrea E., Martus, Peter, Lütjohann, Dieter, Griffiths, William J., Schöls, Ludger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Patient-oriented and Epidemiological Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8135047/
https://www.ncbi.nlm.nih.gov/pubmed/33891937
http://dx.doi.org/10.1016/j.jlr.2021.100078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8135047/
https://www.ncbi.nlm.nih.gov/pubmed/33891937
http://dx.doi.org/10.1016/j.jlr.2021.100078

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