Articles with "lcat deficiency" as a keyword



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CER-001 ameliorates lipid profile and kidney disease in a mouse model of familial LCAT deficiency

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Published in 2021 at "Atherosclerosis"

DOI: 10.1016/j.atherosclerosis.2021.06.112

Abstract: Abstract Objective CER-001 is an HDL mimetic that has been tested in different pathological conditions, but never with LCAT deficiency. This study was designed to investigate whether the absence of LCAT affects the catabolic fate… read more here.

Keywords: lcat deficiency; cer; disease; cer 001 ... See more keywords
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LCAT deficiency as a cause of proteinuria and corneal opacification

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Published in 2018 at "BMJ Case Reports"

DOI: 10.1136/bcr-2017-224129

Abstract: A 44-year-old woman was diagnosed with corneal dystrophy (figure 1) and anaemia. Analytically, she showed an altered lipid profile (cholesterol 172 mg/dL, triglycerides 173 mg/dL, high-density lipoprotein (HDL) cholesterol 6.6 mg/dL, low-density lipoprotein cholesterol 131 mg/dL, very low-density lipoprotein (VLDL)… read more here.

Keywords: lcat deficiency; deficiency cause; density lipoprotein; cause proteinuria ... See more keywords
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Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort.

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Published in 2020 at "Journal of lipid research"

DOI: 10.1194/jlr.p120000976

Abstract: 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… read more here.

Keywords: familial lcat; deficiency; disease; kidney ... See more keywords