Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency

BACKGROUND AND AIMS: We report the first two cases of familial lecithin:cholesterol acyltransferase (LCAT) deficiency in Croatia with classical clinical and biochemical features. PATIENTS AND METHODS: A 30-year-old man with nephrotic syndrome, corneal opacities, hepatosplenomegaly, anemia, low high-...

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Detalles Bibliográficos
Autores principales: Fistrek Prlic, Margareta, Coric, Marijana, Calabresi, Laura, Pavanello, Chiara, Mosca, Lorena, Cavallari, Ugo, Vukovic Brinar, Ivana, Karanovic, Sandra, Laganovic, Mario, Jelakovic, Bojan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833264/
https://www.ncbi.nlm.nih.gov/pubmed/36644204
http://dx.doi.org/10.1016/j.athplu.2022.05.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833264/
https://www.ncbi.nlm.nih.gov/pubmed/36644204
http://dx.doi.org/10.1016/j.athplu.2022.05.005

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