Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX is likely underdiagnosed, and prevalence estimates based o...

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Detalles Bibliográficos
Autores principales: Pramparo, Tiziano, Steiner, Robert D., Rodems, Steve, Jenkinson, Celia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843874/
https://www.ncbi.nlm.nih.gov/pubmed/36650582
http://dx.doi.org/10.1186/s13023-022-02578-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843874/
https://www.ncbi.nlm.nih.gov/pubmed/36650582
http://dx.doi.org/10.1186/s13023-022-02578-1

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