Literature DB >> 15906702

Newborn screening in Japan.

Kikumaro Aoki1.   

Abstract

In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according to law. A new activity involving screening for Wilson disease now necessitates taking dried blood specimens from children 1-3 years old.

Entities:  

Mesh:

Year:  2003        PMID: 15906702

Source DB:  PubMed          Journal:  Southeast Asian J Trop Med Public Health        ISSN: 0125-1562            Impact factor:   0.267


  8 in total

1.  Newborn screening in the Asia Pacific region.

Authors:  Carmencita D Padilla; Bradford L Therrell
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

Review 2.  Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.

Authors:  Lin Mei; Peipei Song; Norihiro Kokudo; Lingzhong Xu; Wei Tang
Journal:  Intractable Rare Dis Res       Date:  2013-11

Review 3.  Newborn screening for homocystinuria.

Authors:  John H Walter; Nikki Jahnke; Tracey Remmington
Journal:  Cochrane Database Syst Rev       Date:  2015-10-01

4.  Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source.

Authors:  Mads V Hollegaard; Jakob Grove; Jonas Grauholm; Eskil Kreiner-Møller; Klaus Bønnelykke; Mette Nørgaard; Thomas L Benfield; Bent Nørgaard-Pedersen; Preben B Mortensen; Ole Mors; Henrik T Sørensen; Zitta B Harboe; Anders D Børglum; Ditte Demontis; Torben F Ørntoft; Hans Bisgaard; David M Hougaard
Journal:  BMC Genet       Date:  2011-07-04       Impact factor: 2.797

5.  Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis.

Authors:  Bo G Winkel; Mads V Hollegaard; Morten S Olesen; Jesper H Svendsen; Stig Haunsø; David M Hougaard; Jacob Tfelt-Hansen
Journal:  BMC Med Genet       Date:  2011-02-09       Impact factor: 2.103

6.  High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Authors:  Jesper Buchhave Poulsen; Francesco Lescai; Jakob Grove; Marie Bækvad-Hansen; Michael Christiansen; Christian Munch Hagen; Julian Maller; Christine Stevens; Shenting Li; Qibin Li; Jihua Sun; Jun Wang; Merete Nordentoft; Thomas Mears Werge; Preben Bo Mortensen; Anders Dupont Børglum; Mark Daly; David Michael Hougaard; Jonas Bybjerg-Grauholm; Mads Vilhelm Hollegaard
Journal:  PLoS One       Date:  2016-04-18       Impact factor: 3.240

7.  Genome-wide scans using archived neonatal dried blood spot samples.

Authors:  Mads V Hollegaard; Jonas Grauholm; Anders Børglum; Mette Nyegaard; Bent Nørgaard-Pedersen; Torben Ørntoft; Preben B Mortensen; Carsten Wiuf; Ole Mors; Michael Didriksen; Poul Thorsen; David M Hougaard
Journal:  BMC Genomics       Date:  2009-07-04       Impact factor: 3.969

8.  Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue.

Authors:  Shavanthi Rajatileka; Karen Luyt; Manal El-Bokle; Maggie Williams; Helena Kemp; Elek Molnár; Anikó Váradi
Journal:  BMC Genet       Date:  2013-10-29       Impact factor: 2.797

  8 in total

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