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Items: 15

1.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

Hörster F, Kölker S, Loeber JG, Cornel MC, Hoffmann GF, Burgard P.

JIMD Rep. 2017;32:105-115. doi: 10.1007/8904_2016_537. Epub 2016 Jun 26.

2.

Current status of newborn screening worldwide: 2015.

Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, Adams J.

Semin Perinatol. 2015 Apr;39(3):171-87. doi: 10.1053/j.semperi.2015.03.002. Review.

PMID:
25979780
3.

50 years of newborn screening.

Hoffmann GF, Lindner M, Loeber JG.

J Inherit Metab Dis. 2014 Mar;37(2):163-4. doi: 10.1007/s10545-014-9688-5. No abstract available.

PMID:
24526389
4.

To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis.

Vernooij-van Langen AM, Reijntjens S, van der Pal SM, Loeber JG, Dompeling E, Dankert-Roelse JE.

Eur J Med Genet. 2013 Apr;56(4):192-6. doi: 10.1016/j.ejmg.2013.01.006. Epub 2013 Jan 24.

PMID:
23352994
5.

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Roefs J, Gille JJ, Reijntjens S, Dompeling E, Dankert-Roelse JE.

J Inherit Metab Dis. 2013 Jan;36(1):147-54. doi: 10.1007/s10545-012-9498-6. Epub 2012 Jun 28.

PMID:
22739940
6.

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, Hoffmann GF, Vittozzi L.

J Inherit Metab Dis. 2012 Jul;35(4):603-11. doi: 10.1007/s10545-012-9483-0. Epub 2012 May 3.

PMID:
22552820
7.

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

Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF.

J Inherit Metab Dis. 2012 Jul;35(4):613-25. doi: 10.1007/s10545-012-9484-z. Epub 2012 Apr 28.

PMID:
22544437
8.

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

Cornel MC, Gille JJ, Loeber JG, Vernooij-van Langen AM, Dankert-Roelse J, Bolhuis PA.

J Inherit Metab Dis. 2012 Jul;35(4):635-40. doi: 10.1007/s10545-012-9452-7.

9.

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Gille JJ, Van der Ploeg CP, Reijntjens S, Dompeling E, Dankert-Roelse JE; CHOPIN Study Group.

Thorax. 2012 Apr;67(4):289-95. doi: 10.1136/thoraxjnl-2011-200730. Epub 2012 Jan 23.

PMID:
22271776
10.

Congenital cytomegalovirus infection in the Netherlands: birth prevalence and risk factors.

de Vries JJ, Korver AM, Verkerk PH, Rusman L, Claas EC, Loeber JG, Kroes AC, Vossen AC.

J Med Virol. 2011 Oct;83(10):1777-82. doi: 10.1002/jmv.22181.

PMID:
21837795
11.

Implementing neonatal screening for haemoglobinopathies in the Netherlands.

Bouva MJ, Mohrmann K, Brinkman HB, Kemper-Proper EA, Elvers B, Loeber JG, Verheul FE, Giordano PC.

J Med Screen. 2010;17(2):58-65. doi: 10.1258/jms.2010.009075.

PMID:
20660432
12.

Legal issues in neonatal screening.

Loeber JG.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):92-2.

13.

Neonatal screening in Europe; the situation in 2004.

Loeber JG.

J Inherit Metab Dis. 2007 Aug;30(4):430-8. Epub 2007 Jul 6. Erratum in: J Inherit Metab Dis. 2008 Jun;31(3):469.

PMID:
17616847
15.

Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection.

van der Knaap MS, Vermeulen G, Barkhof F, Hart AA, Loeber JG, Weel JF.

Radiology. 2004 Feb;230(2):529-36. Erratum in: Radiology. 2004 May;231(2):605.

PMID:
14752192

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