Art

J-GLOBAL ID：201802280285802445   Reference number：18A1764383

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

シトステロール血症,高コレステロール血症,および冠動脈疾患

Author (6)： Tada Hayato (Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Science) ,  Nohara Atsushi (Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Science) ,  Inazu Akihiro (Department of Laboratory Science, Molecular Biochemistry and Molecular Biology, Graduate School of Medical Science, Kanazawa University) ,  Sakuma Nagahiko (Department of Cardio-Renal Medicine and Hypertension, Nagoya City University Graduate School of Medical Sciences) ,  Mabuchi Hiroshi (Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Science) ,  Kawashiri Masa-aki (Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Science)
Material： Journal of Atherosclerosis and Thrombosis (Web)  (J Atheroscler Thromb (Web))
Volume： 25  Issue： 9  Page： 783-789(J-STAGE)  Publication year： 2018 
JST Material Number： U0153A  ISSN： 1880-3873  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： LDL apheresis ,...

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Author keywords (4)： Sitosterolemia ,  ABCG5 ,  ABCG8 ,  Familial hypercholesterolemia

JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (2)： Ezetimibe ,  β-Sitosterol

Reference (31)：

• 1) Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Diseases. 8th edition. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw- Hill, New York. 2001; 2863-2913
• 2) Soutar AK, Naoumova RP. Mechanisms of Disease: genetic causes of familial hypercholesterolemia. Nat Pract Cardiovasc Med. 2007; 4: 214-225
• 3) Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014; 16: 424
• 4) 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
• 5) Tada H, Kawashiri MA, Okada H, Endo S, Toyoshima Y, Konno T, Nohara A, Inazu A, Takao A, Mabuchi H, Yamagishi M, Hayashi K. A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. J Atheroscler Thromb. 2016; 23: 884-890

Terms in the title (3)： シトステロール血症 ,  高コレステロール血症 ,  冠動脈疾患