文献

J-GLOBAL ID：202102289118190514   整理番号：21A2146607

ホモ接合性家族性高コレステロール血症

Homozygous Familial Hypercholesterolemia

著者 (14件)： Nohara Atsushi (Department of Clinical Genetics, Ishikawa Prefectural Central Hospital) ,  Tada Hayato (Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences) ,  Ogura Masatsune (Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute) ,  Okazaki Sachiko (Division for Health Service Promotion, The University of Tokyo) ,  Ono Koh (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Shimano Hitoshi (Department of Internal Medicine (Endocrinology and Metabolism), Faculty of Medicine University of Tsukuba) ,  Daida Hiroyuki (Faculty of Health Science, Juntendo University, Juntendo University Graduate School of Medicine) ,  Dobashi Kazushige (Department of Pediatrics, School of Medicine, University of Yamanashi) ,  Hayashi Toshio (School of Health Sciences, Nagoya University Graduate School of Medicine) ,  Hori Mika (Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University) ,  Matsuki Kota (Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine) ,  Minamino Tetsuo (Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University) ,  Yokoyama Shinji (Institute for Biological Functions, Chubu University) ,  Harada-Shiba Mariko (Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute)
資料名： Journal of Atherosclerosis and Thrombosis (Web)  (Journal of Atherosclerosis and Thrombosis (Web))
巻： 28  号： 7  ページ： 665-678(J-STAGE)  発行年： 2021年 
JST資料番号： U0153A  ISSN： 1880-3873  資料種別： 逐次刊行物 (A)
記事区分： 文献レビュー  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 家族性高コレステロール血症(FH)は,LDL受容体仲介経路に...

シソーラス用語： ヒト ,...
準シソーラス用語： LDLアフェレーシス ,...

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著者キーワード (9件)： ホモ接合性家族性高コレステロール血症 ,  家族研究 ,  遺伝子診断 ,  リポ蛋白アフェレーシス ,  MTP阻害剤 ,  PCSK9阻害剤 ,  皮膚 ,  腱黄色腫 ,  大動脈弁上狭窄症

分類 (2件)： 先天性疾患・奇形一般  (GD03010V) ,  代謝異常・栄養性疾患一般  (GD05010J)

引用文献 (76件)：

• 1) Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K and Working Group by Japan Atherosclerosis Society for Making Guidance of Familial H. Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. J Atheroscler Thromb, 2018; 25: 751-770
• 2) Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. The Metabolic & Molecular Bases of Inherited Disease. eighth edition. Vol. 2, Mac Graw Hill. 2863-2913
• 3) Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Familial hypercholesterolemia. Nat Rev Dis Primers, 2017, 3: 17093
• 4) Harada-Shiba M, Takagi A, Miyamoto Y, Tsushima M, Ikeda Y, Yokoyama S and Yamamoto A. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. J Clin Endocrinol Metab, 2003; 88: 2541-2547
• 5) Tada H, Kawashiri MA, Ikewaki K, Terao Y, Noguchi T, Nakanishi C, Tsuchida M, Takata M, Miwa K, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H and Yamagishi M. Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. Circ Cardiovasc Genet, 2012; 5: 35-41

タイトルに関連する用語 (1件)： ホモ接合性家族性高コレステロール血症