A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia-Reference-Cited by-同舟云学术

A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia

Published:2021-11-30 Issue:2 Volume:49 Page:1623-1630
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Moffa Simona,Onori Maria Elisabetta,De Paolis Elisa,Ricciardi Tenore Claudio,Perrucci Alessia,Pontecorvi Alfredo,Giaccari Andrea,Urbani Andrea,Minucci Angelo^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-021-07015-3.pdf

Reference22 articles.

1. Wilemon KA, Patel J, Aguilar-Salinas C et al (2020) Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action. JAMA Cardiol 5:217–229. https://doi.org/10.1001/jamacardio.2019.5173

2. Nordestgaard BG, Chapman MJ, Humphries SE et al (2013) European Atherosclerosis Society Consensus Panel, Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis. Societ Eur Heart J 34:3478–4390. https://doi.org/10.1093/eurheartj/eht273

3. Haralambos K, Ashfield-Watt P, McDowell IF (2016) Diagnostic scoring for familial hypercholesterolaemia in practice. Curr Opin Lipidol 27:367–374. https://doi.org/10.1097/MOL.0000000000000325

4. Defesche JC, Lansberg PJ, Umans-Eckenhausen MAW (2004) Advanced method for the identification of patients with inherited hypercholesterolemia. Semin Vasc Med 4:59–65. https://doi.org/10.1055/s-2004-822987

5. Betteridge DJ, Broome K, Durrington PN (1991) Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 303:893–896. https://doi.org/10.1136/bmj.303.6807.893

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