Art

J-GLOBAL ID：201402205036632340   Reference number：14A0101775

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

日本におけるFabry病の新生児スクリーニング:予備研究におけるFabry病の有病率と遺伝子型

Author (6)： INOUE Takahito (Fukuoka Univ., Fukuoka, JPN) ,  HATTORI Kiyoko (Kumamoto Univ., Kumamoto, JPN) ,  IHARA Kenji (Kyushu Univ., Fukuoka, JPN) ,  ISHII Atsushi (Fukuoka Univ., Fukuoka, JPN) ,  NAKAMURA Kimitoshi (Kumamoto Univ., Kumamoto, JPN) ,  HIROSE Shinichi (Fukuoka Univ., Fukuoka, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 58  Issue： 8  Page： 548-552  Publication year： Aug. 2013 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： morbidity ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=14A0101775&from=J-GLOBAL&jstjournalNo=Z0756A") }}

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (33)：

• DESNICK, R. J. Alpha-galactosidase A Deficiency: Fabry Disease. The Metabolic and Molecular Bases of lnherited Disease. 2001, 3733-3774
• MEHTA, A. Fabry disease: a review of current management strategies. QJM. 2010, 103, 641-659
• NAKAMURA, K. Newborn screening for lysosomal storage disorder. Am. J. Med. Genet. C. Semin. Med. Genet. 2011, 157, 63-71
• RAMASWAMI, U. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta. Paediatr. 2006, 95, 86-92
• ENG, C.M. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. lnherit. Metab. Dis. 2007, 30, 184-192

Terms in the title (6)： 日本 ,  Fabry病 ,  新生児スクリーニング ,  研究 ,  有病率 ,  遺伝子型