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A woman with low HDL cholesterol and corneal opacity. 2012

Tiziano Lucchi, and Laura Calabresi, and Angela Pinto, and Elisa Benetti, and Beatrice Arosio, and Sara Simonelli, and Roberto Ratiglia, and Carlo Vergani
Metabolic Diseases Clinic, Geriatric Operating Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, University of Milan, Italy. tlucchi@policlinico.mi.it

UI MeSH Term Description Entries
D007863 Lecithin Cholesterol Acyltransferase Deficiency An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. Dyslipoproteinemic Corneal Dystrophy,Fish-Eye Disease,LCAT Deficiency,LCATA Deficiency,Lecithin:Cholesterol Acyltransferase Deficiency,Norum Disease,alpha-LCAT Deficiency,alpha-Lecithin-Cholesterol Acyltransferase Deficiency,alpha-Lecithin:Cholesterol Acyltransferase Deficiency,Acyltransferase Deficiency, Lecithin:Cholesterol,Corneal Dystrophy, Dyslipoproteinemic,Deficiency, LCAT,Deficiency, alpha-LCAT,Fish Eye Disease,LCATA Deficiencies,alpha LCAT Deficiency
D008076 Cholesterol, HDL Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol. High Density Lipoprotein Cholesterol,Cholesterol, HDL2,Cholesterol, HDL3,HDL Cholesterol,HDL(2) Cholesterol,HDL(3) Cholesterol,HDL2 Cholesterol,HDL3 Cholesterol,alpha-Lipoprotein Cholesterol,Cholesterol, alpha-Lipoprotein,alpha Lipoprotein Cholesterol
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D003318 Corneal Opacity Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014463 Ultrasonography The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic
D015992 Body Mass Index An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI Quetelet Index,Quetelet's Index,Index, Body Mass,Index, Quetelet,Quetelets Index

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