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Literature DB >> 17616846

Introducing new screens: why are we all doing different things?

Abstract

The disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and Jungner principles and of underlying data in the scientific literature, and great disparities between the value judgements applied in screening and in routine clinical practice.

Entities: Disease

Mesh：

Year: 2007 PMID： 17616846 DOI： 10.1007/s10545-007-0647-2

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

22 in total

Review 1. Principles and performance: assessing the evidence.

Authors: R J Pollitt
Journal: Acta Paediatr Suppl Date: 1999-12

2. Screening for lysosomal storage disorders--a clinical perspective.

Authors: Janice M Fletcher
Journal: J Inherit Metab Dis Date: 2006 Apr-Jun Impact factor: 4.982

3. International perspectives on newborn screening.

Authors: R J Pollitt
Journal: J Inherit Metab Dis Date: 2006 Apr-Jun Impact factor: 4.982

4. Newborn screening technology: proceed with caution.

Authors: Jeffrey R Botkin; Ellen Wright Clayton; Norman C Fost; Wylie Burke; Thomas H Murray; Mary Ann Baily; Benjamin Wilfond; Alfred Berg; Lainie Friedman Ross
Journal: Pediatrics Date: 2006-05 Impact factor: 7.124

5. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results.

Authors: Beth A Tarini; Dimitri A Christakis; H Gilbert Welch
Journal: Pediatrics Date: 2006-08 Impact factor: 7.124

6. [The advisory report 'Neonatal screening' from the Health Council of The Netherlands].

Authors: P A Bolhuis; G C M L Page-Christiaens
Journal: Ned Tijdschr Geneeskd Date: 2005-12-17

7. A vision of the future of newborn screening.

Authors: Duane Alexander; Peter C van Dyck
Journal: Pediatrics Date: 2006-05 Impact factor: 7.124

8. Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program.

Authors: Caren I Lanting; David A van Tijn; J Gerard Loeber; Thomas Vulsma; Jan J M de Vijlder; Paul H Verkerk
Journal: Pediatrics Date: 2005-07 Impact factor: 7.124

9. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Authors: R Fingerhut; W Röschinger; A C Muntau; T Dame; J Kreischer; R Arnecke; A Superti-Furga; H Troxler; B Liebl; B Olgemöller; A A Roscher
Journal: Clin Chem Date: 2001-10 Impact factor: 8.327

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

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

17 in total

1. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.

Authors: Peter Burgard; Kathrin Rupp; Martin Lindner; Gisela Haege; Tessel Rigter; Stephanie S Weinreich; J Gerard Loeber; Domenica Taruscio; Luciano Vittozzi; Martina C Cornel; Georg F Hoffmann
Journal: J Inherit Metab Dis Date: 2012-04-28 Impact factor: 4.982

Review 2. Genetic screening: A primer for primary care.

Authors: Anne Andermann; Ingeborg Blancquaert
Journal: Can Fam Physician Date: 2010-04 Impact factor: 3.275

3. Newborn screening.

Authors: James J Pitt
Journal: Clin Biochem Rev Date: 2010-05

Review 4. The consequences of extended newborn screening programmes: do we know who needs treatment?

Authors: B Wilcken
Journal: J Inherit Metab Dis Date: 2008-02-22 Impact factor: 4.982

Review 5. Newborn blood spot screening: new opportunities, old problems.

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

Review 6. Newborn screening: how are we travelling, and where should we be going?

Authors: Bridget Wilcken
Journal: J Inherit Metab Dis Date: 2011-04-16 Impact factor: 4.982

Review 7. Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.

Authors: Yvonne Bombard; Fiona A Miller; Robin Z Hayeems; Denise Avard; Bartha M Knoppers
Journal: Eur J Hum Genet Date: 2010-03-03 Impact factor: 4.246

Review 8. International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.

Authors: Marleen E Jansen; Selina C Metternick-Jones; Karla J Lister
Journal: Eur J Hum Genet Date: 2016-11-16 Impact factor: 4.246

9. Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.

Authors: Holly Etchegary; Stuart G Nicholls; Laure Tessier; Charlene Simmonds; Beth K Potter; Jamie C Brehaut; Daryl Pullman; Robyn Hayeems; Sari Zelenietz; Monica Lamoureux; Jennifer Milburn; Lesley Turner; Pranesh Chakraborty; Brenda Wilson
Journal: Eur J Hum Genet Date: 2016-06-15 Impact factor: 4.246

10. Incidental findings in genetics research using archived DNA.

Authors: Ellen Wright Clayton
Journal: J Law Med Ethics Date: 2008 Impact factor: 1.718