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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| 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 |