Schielen PCJI - Search Results

1

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, van der Burg M; SONNET-Study Group. Blom M, et al. J Clin Immunol. 2021 Jan;41(1):99-108. doi: 10.1007/s10875-020-00886-4. Epub 2020 Oct 18. J Clin Immunol. 2021. PMID: 33070266 Free PMC article.

2

Present to future: what the reasons for declining first-trimester combined testing tell us about accepting or declining cell-free DNA testing.

Crombag NM, van Schendel RV, Schielen PC, Bensing JM, Henneman L. Crombag NM, et al. Prenat Diagn. 2016 Jun;36(6):587-90. doi: 10.1002/pd.4824. Epub 2016 May 10. Prenat Diagn. 2016. PMID: 27061402 No abstract available.

3

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

Kemper EA, Boelen A, Bosch AM, van Veen-Sijne M, van Rijswijk CN, Bouva MJ, Fingerhut R, Schielen PC. Kemper EA, et al. JIMD Rep. 2017;32:1-6. doi: 10.1007/8904_2016_560. Epub 2016 May 21. JIMD Rep. 2017. PMID: 27207469 Free PMC article.

4

An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.

Blom M, Pico-Knijnenburg I, Sijne-van Veen M, Boelen A, Bredius RGM, van der Burg M, Schielen PCJI. Blom M, et al. Clin Immunol. 2017 Jul;180:106-110. doi: 10.1016/j.clim.2017.05.007. Epub 2017 May 6. Clin Immunol. 2017. PMID: 28487086

5

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

Schielen PCJI, Kemper EA, Gelb MH. Schielen PCJI, et al. Int J Neonatal Screen. 2017 Jun;3(2):6. doi: 10.3390/ijns3020006. Epub 2017 Mar 29. Int J Neonatal Screen. 2017. PMID: 28730181 Free PMC article.

6

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.

van der Linde AAA, Schönbeck Y, van der Kamp HJ, van den Akker ELT, van Albada ME, Boelen A, Finken MJJ, Hannema SE, Hoorweg-Nijman G, Odink RJ, Schielen PCJI, Straetemans S, van Trotsenburg PS, Claahsen-van der Grinten HL, Verkerk PH. van der Linde AAA, et al. Arch Dis Child. 2019 Jul;104(7):653-657. doi: 10.1136/archdischild-2018-315972. Epub 2019 Feb 2. Arch Dis Child. 2019. PMID: 30712004

7

Cost-effectiveness of newborn screening for severe combined immunodeficiency.

Van der Ploeg CPB, Blom M, Bredius RGM, van der Burg M, Schielen PCJI, Verkerk PH, Van den Akker-van Marle ME. Van der Ploeg CPB, et al. Eur J Pediatr. 2019 May;178(5):721-729. doi: 10.1007/s00431-019-03346-3. Epub 2019 Feb 25. Eur J Pediatr. 2019. PMID: 30805731

8

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. Jager EA, et al. J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16. J Inherit Metab Dis. 2019. PMID: 31012112

9

Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands.

Stroek K, Heijboer AC, Bouva MJ, van der Ploeg CPB, Heijnen MA, Weijman G, Bosch AM, de Jonge R, Schielen PCJI, van Trotsenburg ASP, Boelen A. Stroek K, et al. Eur J Endocrinol. 2020 Sep;183(3):265-273. doi: 10.1530/EJE-19-1048. Eur J Endocrinol. 2020. PMID: 32580148

10

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Stroek K, Boelen A, Bouva MJ, De Sain-van der Velden M, Schielen PCJI, Maase R, Engel H, Jakobs B, Kluijtmans LAJ, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, Visser G, de Vries MC, Williams M, Heijboer AC, Kemper EA, Bosch AM. Stroek K, et al. JIMD Rep. 2020 May 13;54(1):68-78. doi: 10.1002/jmd2.12124. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685353 Free PMC article.

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