Ontology highlight
ABSTRACT:
SUBMITTER: Pavanello C
PROVIDER: S-EPMC7707181 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Journal of lipid research 20200930 12
Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the <i>LCAT</i> 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 cases. However, the prognosis is not known and the rate of deterioration of kidney function is variable and unpredictable from patient to patient. In this article, we present data from a follow- ...[more]