A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing-Reference-Cited by-同舟云学术

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Published:2016 Issue:7 Volume:23 Page:884-890
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Tada Hayato¹,Kawashiri Masa-aki¹,Okada Hirofumi¹,Endo Saori²,Toyoshima Yuka²,Konno Tetsuo¹,Nohara Atsushi¹,Inazu Akihiro³,Takao Akira²,Mabuchi Hiroshi¹,Yamagishi Masakazu¹,Hayashi Kenshi¹

Affiliation:

1. Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine

2. Department of Pediatrics, Gifu Municipal Hospital

3. Department of Clinical Laboratory Science, Faculty of Health Sciences, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry (medical),Cardiology and Cardiovascular Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/jat/23/7/23_34827/_pdf

Reference19 articles.

1. 1) Shulman RS, Bhattacharyya AK, Connor WE, Fredrickson DS: Beta-sitosterolemia and xanthomatosis. N Engl J Med, 1976; 294: 482-483

2. 2) Tada H, Kawashiri MA, Takata M, Matsunami K, Imamura A, Matsuyama M, Sawada H, Nunoi H, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M: Infantile cases of sitosterolaemia with novel mutations in the ABCG5 gene: Extreme hypercholesterolaemia is exacerbated by breastfeeding. JIMD Rep, 2015; 21: 115-122

3. 3) Salen G, Patel S, Batta AK: Sitosterolemia. Cardiovasc Drug Rev, 2002; 20: 255-270

4. 4) Sohar E, Gafni J, Pras M, Heller H: Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med, 1967; 43: 227-253

5. 5) French FMF Consortium: A candidate gene for familial Mediterranean fever. Nat Genet, 1997; 17: 25-31

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