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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spect...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816572/ https://www.ncbi.nlm.nih.gov/pubmed/36619921 http://dx.doi.org/10.3389/fneur.2022.1049850 |