Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort

Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the LCAT gene and characterized by a variety of symptoms including corneal opacities and kidney failure. Renal disease represents the leading cause of morbidity and mortality in FLD c...

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Vydáno v:J Lipid Res
Hlavní autoři: Pavanello, Chiara, Ossoli, Alice, Arca, Marcello, D’Erasmo, Laura, Boscutti, Giuliano, Gesualdo, Loreto, Lucchi, Tiziano, Sampietro, Tiziana, Veglia, Fabrizio, Calabresi, Laura
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Biochemistry and Molecular Biology 2020
Témata:
Patient-Oriented and Epidemiological Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7707181/
https://ncbi.nlm.nih.gov/pubmed/32998975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P120000976
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