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[Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010].
Med Sci (Paris). 2021 May;37(5):441-456. doi: 10.1051/medsci/2021059. Epub 2021 May 18.
Med Sci (Paris). 2021.
PMID: 34003089
Free article.
French.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.
Bleeker JC, et al. Among authors: schielen pjci.
J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.
J Inherit Metab Dis. 2019.
PMID: 30761551
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The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Diekman E, de Sain-van der Velden M, Waterham H, Kluijtmans L, Schielen P, van Veen EB, Ferdinandusse S, Wijburg F, Visser G.
Diekman E, et al.
JIMD Rep. 2016;27:101-6. doi: 10.1007/8904_2015_476. Epub 2015 Oct 10.
JIMD Rep. 2016.
PMID: 26453363
Free PMC article.
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