Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

RC Wiltink; Michelle Kruijshaar; Rick van Minkelen; W Onkenhout; Frans Verheijen; EA Kemper; FJ van Spronsen; Ans van der Ploeg; KE Niezen-Koning; Jasper Saris; Monique Williams

doi:10.1038/ejhg.2016.65

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

RC Wiltink, Michelle Kruijshaar, Rick van Minkelen, W Onkenhout, Frans Verheijen, EA Kemper, FJ van Spronsen, Ans van der Ploeg, KE Niezen-Koning, Jasper Saris, Monique Williams

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1424-1429
Number of pages	6
Journal	European Journal of Human Genetics
Volume	24
Issue number	10
DOIs	https://doi.org/10.1038/ejhg.2016.65
Publication status	Published - 2016

Research programs

EMC MGC-02-96-01
EMC MM-01-54-01
EMC MM-03-54-04-A

Access to Document

10.1038/ejhg.2016.65

Cite this

Wiltink, RC., Kruijshaar, M., van Minkelen, R., Onkenhout, W., Verheijen, F., Kemper, EA., van Spronsen, FJ., van der Ploeg, A., Niezen-Koning, KE., Saris, J., & Williams, M. (2016). Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. European Journal of Human Genetics, 24(10), 1424-1429. https://doi.org/10.1038/ejhg.2016.65

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title = "Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations",

author = "RC Wiltink and Michelle Kruijshaar and {van Minkelen}, Rick and W Onkenhout and Frans Verheijen and EA Kemper and {van Spronsen}, FJ and {van der Ploeg}, Ans and KE Niezen-Koning and Jasper Saris and Monique Williams",

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Wiltink, RC, Kruijshaar, M , van Minkelen, R, Onkenhout, W, Verheijen, F, Kemper, EA, van Spronsen, FJ, van der Ploeg, A, Niezen-Koning, KE, Saris, J & Williams, M 2016, 'Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations', European Journal of Human Genetics, vol. 24, no. 10, pp. 1424-1429. https://doi.org/10.1038/ejhg.2016.65

TY - JOUR

T1 - Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

AU - Wiltink, RC

AU - Kruijshaar, Michelle

AU - van Minkelen, Rick

AU - Onkenhout, W

AU - Verheijen, Frans

AU - Kemper, EA

AU - van Spronsen, FJ

AU - van der Ploeg, Ans

AU - Niezen-Koning, KE

AU - Saris, Jasper

AU - Williams, Monique

PY - 2016

Y1 - 2016

U2 - 10.1038/ejhg.2016.65

DO - 10.1038/ejhg.2016.65

M3 - Article

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SN - 1018-4813

VL - 24

SP - 1424

EP - 1429

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -