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PLoS ONE, ISSN 1932-6203, 05/2013, Volume 8, Issue 5, pp. e63546 - e63546
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 890 - 897
To evaluate the Dutch newborn screening (NBS) for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational... 
acylcarnitine | inborn errors of metabolism | prevalence | medium‐chain acyl‐CoA dehydrogenase deficiency | neonatal screening
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0159592 - e0159592
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2017, Volume 120, Issue 3, pp. 223 - 228
Introduction: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used... 
Journal Article
BMC Pregnancy and Childbirth, ISSN 1471-2393, 05/2016, Volume 16, Issue 1, pp. 121 - 121
Background: Uptake rates for Down syndrome screening in the Netherlands are low compared to other European countries. To investigate the low uptake, we... 
Trisomy 21 | Informed decision making | Prenatal anomaly screening | Prenatal counselling | Qualitative study | Down syndrome screening | Focus group study | Down syndrome |