Genetic screening to improve the diagnosis of familial hypercholesterolemia-Reference-Cited by-同舟云学术

Genetic screening to improve the diagnosis of familial hypercholesterolemia

Published:2014-10-01 Issue:5 Volume:9 Page:523-532
ISSN:1758-4299
Container-title:Clinical Lipidology
language:en
Short-container-title:Clinical Lipidology

Author:

Faiz Fathimath¹,Nguyen Lan T²,van Bockxmeer Frank M²³,Hooper Amanda J¹²⁴

Affiliation:

1. School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Australia

2. Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia

3. School of Surgery, University of Western Australia, Perth, Australia

4. School of Medicine & Pharmacology, University of Western Australia, Perth, Australia

Publisher

Informa UK Limited

Subject

Cardiology and Cardiovascular Medicine,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.2217/clp.14.32

Reference77 articles.

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS et al. (Eds). McGraw-Hill, NY, USA, 2863–2913 (2001).

2. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J. Clin. Invest. 111(12), 1795–1804 (2003).

3. Naoumova RP, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolaemias. Curr. Opin. Lipidol. 15(4), 413–422 (2004).

4. Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Homozygous familial hypercholesterolaemia. Lancet 379(9823), e1330 (2012).

5. Van Der Graaf A, Avis HJ, Kusters DM et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 123(11), 1167–1173 (2011).

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