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A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency

Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). No treatment is currently available for FLD, but novel thera...

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Detalles Bibliográficos
Autores principales: Vitali, Cecilia, Bajaj, Archna, Nguyen, Christina, Schnall, Jill, Chen, Jinbo, Stylianou, Kostas, Rader, Daniel J., Cuchel, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953693/
https://www.ncbi.nlm.nih.gov/pubmed/35065092
http://dx.doi.org/10.1016/j.jlr.2022.100169

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