Literature DB >> 30876877

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene.

Helena Vaverkova1, Lukas Tichy2, David Karasek3, Tomas Freiberger4.   

Abstract

We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
Copyright © 2019 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autosomal recessive hypercholesterolemia; Clinical phenotype; Ezetimibe; Hypercholesterolemia; LDL apheresis; LDLRAP1; Lipid lowering therapy; PCSK9 inhibitors; Statins

Mesh：

Substances：

Year:  2019        PMID： 30876877     DOI： 10.1016/j.jacl.2019.02.003

Source DB:  PubMed          Journal:  J Clin Lipidol        ISSN： 1876-4789            Impact factor:   4.766


  1 in total

1.  Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients.

Authors:  J Víšek; M Bláha; V Bláha; M Lášticová; M Lánska; C Andrýs; J Duintjer Tebbens; Ivone Cristina Igreja E Sá; K Tripská; M Vicen; I Najmanová; P Nachtigal
Journal:  Orphanet J Rare Dis       Date:  2021-02-27       Impact factor: 4.123
  1 in total

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