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Items: 1 to 20 of 37

1.

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.

J Inherit Metab Dis. 2019 Apr 23. doi: 10.1002/jimd.12102. [Epub ahead of print]

PMID:
31012112
2.

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Gelb MH, Lukacs Z, Ranieri E, Schielen PCJI.

Int J Neonatal Screen. 2019 Mar;5(1). pii: 1. doi: 10.3390/ijns5010001. Epub 2018 Dec 21.

3.

External validation of prognostic models for preeclampsia in a Dutch multicenter prospective cohort.

Lamain-de Ruiter M, Kwee A, Naaktgeboren CA, Louhanepessy RD, De Groot I, Evers IM, Groenendaal F, Hering YR, Huisjes AJM, Kirpestein C, Monincx WM, Schielen PCJI, Van 't Zelfde A, Van Oirschot CM, Vankan-Buitelaar SA, Vonk MAAW, Wiegers TA, Zwart JJ, Moons KGM, Franx A, Koster MPH.

Hypertens Pregnancy. 2019 May;38(2):78-88. doi: 10.1080/10641955.2019.1584210. Epub 2019 Mar 20.

PMID:
30892981
4.

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.

Eur J Pediatr. 2019 May;178(5):721-729. doi: 10.1007/s00431-019-03346-3. Epub 2019 Feb 25.

PMID:
30805731
5.

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.

Arch Dis Child. 2019 Feb 2. pii: archdischild-2018-315972. doi: 10.1136/archdischild-2018-315972. [Epub ahead of print]

PMID:
30712004
6.

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.

J Cyst Fibros. 2019 Jan;18(1):54-63. doi: 10.1016/j.jcf.2018.07.008. Epub 2018 Aug 23.

PMID:
30146269
7.

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.

Mol Genet Metab. 2018 May;124(1):50-56. doi: 10.1016/j.ymgme.2018.03.008. Epub 2018 Mar 21.

PMID:
29580649
8.

Neonatal screening parameters in infants with congenital Cytomegalovirus infection.

Rovito R, Korndewal MJ, Schielen PCJI, Kroes ACM, Vossen ACTM.

Clin Chim Acta. 2017 Oct;473:191-197. doi: 10.1016/j.cca.2017.08.029. Epub 2017 Aug 25.

PMID:
28847685
9.

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.

Int J Neonatal Screen. 2017 Jun;3(2). pii: 6. doi: 10.3390/ijns3020006. Epub 2017 Mar 29.

10.

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.

Clin Immunol. 2017 Jul;180:106-110. doi: 10.1016/j.clim.2017.05.007. Epub 2017 May 6.

PMID:
28487086
11.

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.

Mol Genet Metab. 2017 Mar;120(3):223-228. doi: 10.1016/j.ymgme.2016.12.012. Epub 2016 Dec 29.

PMID:
28065439
12.

Perspectives, preferences and needs regarding early prediction of preeclampsia in Dutch pregnant women: a qualitative study.

Crombag NM, Lamain-de Ruiter M, Kwee A, Schielen PC, Bensing JM, Visser GH, Franx A, Koster MP.

BMC Pregnancy Childbirth. 2017 Jan 7;17(1):12. doi: 10.1186/s12884-016-1195-2.

13.

Pregnancy Associated Plasma Protein-A and Placental Growth Factor in a Sub-Saharan African Population: A Nested Cross-Sectional Study.

Browne JL, Klipstein-Grobusch K, Koster MP, Ramamoorthy D, Antwi E, Belmouden I, Franx A, Grobbee DE, Schielen PC.

PLoS One. 2016 Aug 17;11(8):e0159592. doi: 10.1371/journal.pone.0159592. eCollection 2016.

14.

Reasons for accepting or declining Down syndrome screening in Dutch prospective mothers within the context of national policy and healthcare system characteristics: a qualitative study.

Crombag NM, Boeije H, Iedema-Kuiper R, Schielen PC, Visser GH, Bensing JM.

BMC Pregnancy Childbirth. 2016 May 26;16(1):121. doi: 10.1186/s12884-016-0910-3.

15.

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.

Prenat Diagn. 2016 Jun;36(6):587-90. doi: 10.1002/pd.4824. Epub 2016 May 10. No abstract available.

PMID:
27061402
16.

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ, Derks TG.

Neonatology. 2016;109(4):297-302. doi: 10.1159/000443874. Epub 2016 Feb 24. Review.

17.

First-Trimester Serum Acylcarnitine Levels to Predict Preeclampsia: A Metabolomics Approach.

Koster MP, Vreeken RJ, Harms AC, Dane AD, Kuc S, Schielen PC, Hankemeier T, Berger R, Visser GH, Pennings JL.

Dis Markers. 2015;2015:857108. doi: 10.1155/2015/857108. Epub 2015 Jun 4.

18.

Predictive performance of a seven-plex antibody array in prenatal screening for Down Syndrome.

Pennings JL, Imholz S, Zutt I, Koster MP, Siljee JE, de Vries A, Schielen PC, Rodenburg W.

Dis Markers. 2015;2015:519851. doi: 10.1155/2015/519851. Epub 2015 Apr 23.

19.

Determinants of first trimester combined test participation within the central region of the Netherlands.

Crombag NM, Schielen PC, Hukkelhoven CW, Iedema R, Bensing JM, Visser GH, Stoutenbeek P, Koster MP.

Prenat Diagn. 2015 May;35(5):486-92. doi: 10.1002/pd.4564.

PMID:
25613681
20.

Explaining variation in Down's syndrome screening uptake: comparing the Netherlands with England and Denmark using documentary analysis and expert stakeholder interviews.

Crombag NM, Vellinga YE, Kluijfhout SA, Bryant LD, Ward PA, Iedema-Kuiper R, Schielen PC, Bensing JM, Visser GH, Tabor A, Hirst J.

BMC Health Serv Res. 2014 Sep 25;14:437. doi: 10.1186/1472-6963-14-437.

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