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Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?
Lecithin-cholesterol acyltransferase (LCAT), an enzyme that participates in lipoprotein metabolism, plays an important role in cholesterol homeostasis. Mutations in the LCAT gene can cause two rare genetic disorders: familial LCAT deficiency (FLD), which is characterized by corneal opacities, normoc...
Autores principales: | de Serpa Brandão, Rafael Melo Santos, Britto, Fábio Barros, do Monte Neto, José Tiburcio, Lima, Marcelo Cunha, do Monte, Semiramis Jamil Hadad, de Sousa Lima, Antonio Vanildo, Pereira, Ester Miranda, da Silva, Higo José Neri, Oliveira, Deylane Menezes Teles e, Coelho, Antonio Gilberto Borges, da Silva, Adalberto Socorro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856911/ https://www.ncbi.nlm.nih.gov/pubmed/35242572 http://dx.doi.org/10.1016/j.ymgmr.2021.100840 |
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