Schielen PCJI - Search Results

1

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

2

The Editor's Choice for Issue 2, Volume 8.

Schielen PCJI. Schielen PCJI. Int J Neonatal Screen. 2023 May 5;9(2):27. doi: 10.3390/ijns9020027. Int J Neonatal Screen. 2023. PMID: 37218892 Free PMC article.

3

Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value.

Bouva MJ, Sollaino C, Perseu L, Galanello R, Giordano PC, Harteveld CL, Cnossen MH, Schielen PC, Elvers LH, Peters M. Bouva MJ, et al. J Med Screen. 2011;18(4):182-6. doi: 10.1258/jms.2011.011043. J Med Screen. 2011. PMID: 22184733

4

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.

5

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

Welling L, Boelen A, Derks TG, Schielen PC, de Vries M, Williams M, Wijburg FA, Bosch AM. Welling L, et al. Mol Genet Metab. 2017 Mar;120(3):223-228. doi: 10.1016/j.ymgme.2016.12.012. Epub 2016 Dec 29. Mol Genet Metab. 2017. PMID: 28065439

6

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

7

Neonatal screening parameters in infants with congenital Cytomegalovirus infection.

Rovito R, Korndewal MJ, Schielen PCJI, Kroes ACM, Vossen ACTM. Rovito R, et al. Clin Chim Acta. 2017 Oct;473:191-197. doi: 10.1016/j.cca.2017.08.029. Epub 2017 Aug 25. Clin Chim Acta. 2017. PMID: 28847685

8

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM. Stroek K, et al. Mol Genet Metab. 2018 May;124(1):50-56. doi: 10.1016/j.ymgme.2018.03.008. Epub 2018 Mar 21. Mol Genet Metab. 2018. PMID: 29580649

9

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Dankert-Roelse JE, Bouva MJ, Jakobs BS, Janssens HM, de Winter-de Groot KM, Schönbeck Y, Gille JJP, Gulmans VAM, Verschoof-Puite RK, Schielen PCJI, Verkerk PH. Dankert-Roelse JE, et al. J Cyst Fibros. 2019 Jan;18(1):54-63. doi: 10.1016/j.jcf.2018.07.008. Epub 2018 Aug 23. J Cyst Fibros. 2019. PMID: 30146269 Free article.

10

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

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