Identification of rare diseases by screening a population selected on the basis of routine pathology results—the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2017-204727
Abstract: Aims Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases… read more here.
Keywords: acid lipase; ester storage; lysosomal acid; pathology ... See more keywords
Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical Biochemistry"
DOI: 10.1177/0004563218793165
Abstract: Background and aim Familial hypercholesterolaemia is caused by variants in the low-density lipoprotein cholesterol metabolic pathway involving LDLR, APOB and PCSK9 genes. A national genetic testing service in Wales, UK has observed that no familial… read more here.
Keywords: hypercholesterolaemia; ester storage; cholesteryl ester; familial hypercholesterolaemia ... See more keywords