Art

J-GLOBAL ID：201302226009250614   Reference number：13A1002905

Familial Hypercholesterolemia with Multiple Large Tendinous Xanthomas and Advanced Coronary Artery Atherosclerosis

多発性巨大腱黄色腫と進行冠状動脈粥状硬化症を伴う家族性高コレステロール血症

Author (13)： TERASAKI Fumio (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  MORITA Hideaki (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  HARADA-SHIBA Mariko (Dep. of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Res. Inst., JPN) ,  OHTA Naotaka (Lab. of Molecular Genetics, National Cerebral and Cardiovascular Center Res. Inst., JPN) ,  OTSUKA Kaoru (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  NOGI Shinpei (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  MIYAMURA Masatoshi (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  SUZUKI Shuji (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  ITO Takahide (Dep. of Cardiology, Osaka Medical Coll., JPN) ,  SHIMOMURA Hiroaki (Dep. of Internal Medicine, Arisawa General Hospital, JPN) ,  KATSUMATA Takahiro (Dep. of Cardiovascular Surgery, Osaka Medical Coll., JPN) ,  MIYAMOTO Yoshihiro (Dep. of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Res. Inst., JPN) ,  ISHIZAKA Nobukazu (Dep. of Cardiology, Osaka Medical Coll., JPN)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 52  Issue： 5  Page： 577-581 (J-STAGE)  Publication year： 2013 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Tendon xanthoma ,...

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JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Cardiovascular system diseases  (GJ03000C)

Substance index (4)： Rosuvastatin Calcium ,  Metformin hydrochloride ,  Pioglitazone hydrochloride ,  Glimepiride

Reference (11)：

• 1. Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 168: 1-14, 2003.
• 2. van Aalst-Cohen ES, Jansen AC, Tanck MW, et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 27: 2240-2246, 2006.
• 3. Schuster H, Rauh G, Muller S, Keller C, Wolfram G, Zollner N. Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100. Analytical Biochemistry 204: 22-25, 1992.
• 4. Harada K, Miyamoto Y, Morisaki H, et al. A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. J Atheroscler Thromb 17: 131-140, 2010.
• 5. Goldstein JL, Brown MS. History of discovery: the LDL receptor. Arterioscler Thromb Vasc Biol 29: 431-438, 2009.

Terms in the title (3)： 腱黄色腫 ,  冠状動脈粥状硬化症 ,  家族性高コレステロール血症