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J-GLOBAL ID:202102270479741783   Reference number:21A0327561

先天性副腎過形成症の新生児マススクリーニングの現状とその課題

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Material:
Volume: 125  Issue:Page: 11-23  Publication year: Jan. 01, 2021 
JST Material Number: F0896A  ISSN: 0001-6543  CODEN: NIPOA  Document type: Article
Article type: 解説  Country of issue: Japan (JPN)  Language: JAPANESE (JA)
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Endocrine system diagnosis  ,  Diagnostics of congenital diseases, deformities.  ,  Diagnostics of metabolic diseases,nutritional diseases. 
Reference (63):
  • 日本小児内分泌学会小児内分泌学.第2版.2016:371-394.
  • Suwa S. Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan. Screening 1994 ; 3 ; 141-151.
  • Tsuji A, Konishi K, Hasegawa S, et al. Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013 ; a retrospective population-based study. BMC Pediatr 2015 ; 15 : 209.
  • Morikawa S, Nakamura A, Fujikura K, et al. Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. Clin Pediatr Endocrinol 2014 ; 23 ; 35-43.
  • Kashimada K, Ishii T, Nagasaki K, et al. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr J 2015 ; 62 : 277-282.
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