Art

J-GLOBAL ID：201302286155853188   Reference number：13A0069052

Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses

その後の臨床経過が異なった2人のUpshaw-Schulman症候群の新生児発症患者

Author (11)： TANABE Saori (Nihonkai General Hospital, Yamagata, JPN) ,  YAGI Hideo (Nara Medical Univ., Nara, JPN) ,  KIMURA Toshiyuki (Nihonkai General Hospital, Yamagata, JPN) ,  ISONISHI Ayami (Nara Medical Univ., Nara, JPN) ,  KATO Seiji (Nara Medical Univ., Nara, JPN) ,  YOSHIDA Yoko (Nara Medical Univ., Nara, JPN) ,  HAYAKAWA Masaki (Nara Medical Univ., Nara, JPN) ,  MATSUMOTO Masanori (Nara Medical Univ., Nara, JPN) ,  OHTAKI Shinsuke (Nihonkai General Hospital, Yamagata, JPN) ,  TAKAHASHI Yukihiro (Nara Medical Univ. Hospital, Nara, JPN) ,  FUJIMURA Yoshihiro (Nara Medical Univ., Nara, JPN)
Material： International Journal of Hematology  (Int J Hematol)
Volume： 96  Issue： 6  Page： 789-797  Publication year： Dec. 2012 
JST Material Number： F0888A  ISSN： 0925-5710  CODEN： IJHEEY  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： ADAMTS-13 ,...

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JST classification (1)： Clinical hematology in general  (GK01030Y)

Reference (25)：

• SCHULMAN, I. Studies on thrombopoiesis. I. A factor in normal human plasma required for platelet production ; chronic thrombocytopenia due to its deficiency. Blood. 1960, 16, 943-957
• UPSHAW, JD Jr. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med. 1978, 298, 1350-1352
• LEVY, GG. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001, 413, 488-494
• FUJIMURA, Y. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Throm Haemostat. 2011, 9, Suppl 1, 283-301
• LOTTA, LA. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat. 2010, 31, 11-19

Terms in the title (5)： 臨床経過 ,  症候群 ,  新生児 ,  発症 ,  患者