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

• Takahito Inoue

• Kiyoko Hattori

• Kenji Ihara

Journal

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (8), 548-552, 2013-08

  Tokyo : Springer Nature

Keywords

• enzyme replacement therapy
• Fabry disease
• genetic counseling
• mass screening
• metabolic disorder
• newborn screening
• X-linked recessive lysosomal storage disorder

Details

• CRID: 1521417755706408320
• NII Article ID: 10031195285
• NII Book ID: AA11206160
• ISSN: 14345161
• NDL BIB ID: 024767097
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024767097
• Web Site: https://search.jamas.or.jp/link/ui/2014129309
• Text Lang: en
• NDL Source Classification:
  • ZS16(科学技術--医学--人類遺伝学)
• Data Source:
  • NDL
  • CiNii Articles