Literature DB >> 19501689

Newborn screening for genetic disorders.

Paul M Fernhoff1.   

Abstract

Newborn screening has become an integral part of the evaluation of more than 4 million newborns a year in the United States and of most newborns in industrialized countries and many in developing countries. Because the term "newborn screening" refers to many procedures performed in a nursery such as screening for hearing loss or congenital heart disease, this discussion is limited to screening for genetic or congenital disorders with blood spotted on filter paper cards. This discussion reflects primarily the experiences and current status of NBS programs in the United States.

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Year:  2009        PMID: 19501689     DOI: 10.1016/j.pcl.2009.03.002

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  8 in total

1.  Maternal screening for hypothyroidism and thyroiditis using filter paper specimens.

Authors:  T P Foley; J J Henry; L F Hofman; R D Thomas; J S Sanfilippo; E W Naylor
Journal:  J Womens Health (Larchmt)       Date:  2013-09-11       Impact factor: 2.681

Review 2.  Personalized genomic information: preparing for the future of genetic medicine.

Authors:  Alan E Guttmacher; Amy L McGuire; Bruce Ponder; Kári Stefánsson
Journal:  Nat Rev Genet       Date:  2010-01-12       Impact factor: 53.242

3.  Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

Authors:  R Kishore Kumar; Hari Das; Prakash Kini
Journal:  J Obstet Gynaecol India       Date:  2015-06-11

4.  Analysis of tacrolimus and creatinine from a single dried blood spot using liquid chromatography tandem mass spectrometry.

Authors:  Dennis R Koop; Lisa A Bleyle; Myrna Munar; Ganesh Cherala; Amira Al-Uzri
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2013-03-04       Impact factor: 3.205

5.  Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Authors:  Yuval E Landau; Susan E Waisbren; Lawrence M A Chan; Harvey L Levy
Journal:  J Inherit Metab Dis       Date:  2017-01-04       Impact factor: 4.982

6.  Alzheimer's disease: diagnostics, prognostics and the road to prevention.

Authors:  Iris Grossman; Michael W Lutz; Donna G Crenshaw; Ann M Saunders; Daniel K Burns; Allen D Roses
Journal:  EPMA J       Date:  2010-06-29       Impact factor: 6.543

Review 7.  Suicide prediction models: a critical review of recent research with recommendations for the way forward.

Authors:  Ronald C Kessler; Robert M Bossarte; Alex Luedtke; Alan M Zaslavsky; Jose R Zubizarreta
Journal:  Mol Psychiatry       Date:  2019-09-30       Impact factor: 15.992

Review 8.  Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe.

Authors:  Katharina Elisabeth Fischer; Wolf Henning Rogowski
Journal:  Int J Environ Res Public Health       Date:  2014-05-19       Impact factor: 3.390

  8 in total

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