A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in <i>ABCG5</i>-Reference-Cited by-同舟云学术

A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5

Published:2020 Issue:11 Volume:67 Page:1099-1105
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Nakano Yujiro¹,Komiya Chikara¹,Shimizu Hitomi²³,Mishima Hiroyuki³,Shiba Kumiko¹,Tsujimoto Kazutaka¹,Ikeda Kenji¹,Kashimada Kenichi⁴,Dateki Sumito²,Yoshiura Koh-ichiro³,Ogawa Yoshihiro⁵,Yamada Tetsuya¹

Affiliation:

1. Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 113-8519, Japan

2. Department of Pediatrics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaski 852-8501, Japan

3. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan

4. Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 113-8519, Japan

5. Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/67/11/67_EJ20-0044/_pdf

Reference27 articles.

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2. 2 Tada H, Nohara A, Inazu A, Sakuma N, Mabuchi H, et al. (2018) Sitosterolemia, hypercholesterolemia, and coronary artery disease. J Atheroscler Thromb 25: 783–789.

3. 3 Park JH, Chung IH, Kim DH, Choi MH, Garg A, et al. (2014) Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. J Clin Endocrinol Metab 99: 1512–1518.

4. 4 Tada H, Kawashiri M, Tanaka M, Matsunami K, Imamura A, et al. (2015) Infantile cases of sitosterolaemia with novel mutations in the ABCG5 gene: extreme hypercholesterolaemia is exacerbated by breastfeeding. JIMD Rep 21: 115–122.

5. 5 Genser B, Silbernagel G, De Backer G, Bruckert E, Carmena R, et al. (2012) Plant sterols and cardiovascular disease: a systematic review and meta-analysis. Eur Heart J 33: 444–451.

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