Literature DB >> 17505914

Neonatal screening: from the 'Guthrie age' to the 'genetic age'.

Jean-Louis Dhondt1.   

Abstract

Newborn screening has 'traditionally' been performed to detect metabolic or endocrine diseases that are severe, frequent and treatable, according to criteria established in the late 1960s. Technological advances in laboratory testing over the past ten years open new possibilities. However, many new problems have to be explored before the establishment or expansion of a newborn screening programme. The purpose of this paper is to present some of the major problems that screening programmes will face in the near future.

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Year:  2007        PMID: 17505914     DOI: 10.1007/s10545-007-0624-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  16 in total

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Authors:  B L Therrell
Journal:  Mol Genet Metab       Date:  2001 Sep-Oct       Impact factor: 4.797

2.  Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program.

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Journal:  J Pediatr       Date:  2003-06       Impact factor: 4.406

3.  The origin of newborn screening.

Authors:  R Guthrie
Journal:  Screening       Date:  1992

4.  Influence of phenylalanine intake on phenylketonuria.

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Review 6.  Data required for the evaluation of newborn screening programmes.

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Review 7.  Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

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8.  Neonatal screening for cystic fibrosis: France rises to the challenge.

Authors:  J P Farriaux; M Vidailhet; M L Briard; V Belot; J L Dhondt
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

9.  The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts.

Authors:  M Gennaccaro; S E Waisbren; D Marsden
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750

10.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

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  8 in total

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Journal:  J Inherit Metab Dis       Date:  2009-05-04       Impact factor: 4.982

3.  Breast-feeding success among infants with phenylketonuria.

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Journal:  Sci Rep       Date:  2018-01-09       Impact factor: 4.379

6.  Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

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Review 7.  The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.

Authors:  Luan Linden Phillips; Maria Bitner-Glindzicz; Nicholas Lench; Karen P Steel; Cordelia Langford; Sally J Dawson; Adrian Davis; Sue Simpson; Claire Packer
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8.  National neonatal screening program for hemoglobinopathies: how far have we advanced?

Authors:  Silvana Fahel da Fonseca
Journal:  Rev Bras Hematol Hemoter       Date:  2014-05-29
  8 in total

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