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Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.
JIMD Rep. 2017;32:1-6. doi: 10.1007/8904_2016_560. Epub 2016 May 21.
JIMD Rep. 2017.
PMID: 27207469
Free PMC article.
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. Among authors: kemper ea.
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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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
Stroek K, Ruiter A, van der Linde A, Ackermans M, Bouva MJ, Engel H, Jakobs B, Kemper EA, van den Akker ELT, van Albada ME, Bocca G, Finken MJJ, Hannema SE, Mieke Houdijk ECA, van der Kamp HJ, van Tellingen V, Paul van Trotsenburg AS, Zwaveling-Soonawala N, Bosch AM, de Jonge R, Heijboer AC, Claahsen-van der Grinten HL, Boelen A.
Stroek K, et al. Among authors: kemper ea.
J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4487-e4496. doi: 10.1210/clinem/dgab464.
J Clin Endocrinol Metab. 2021.
PMID: 34171085
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Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program.
Blom M, Bredius RGM, Weijman G, Dekkers EHBM, Kemper EA, van den Akker-van Marle ME, van der Ploeg CPB, van der Burg M, Schielen PCJI.
Blom M, et al. Among authors: kemper ea.
Int J Neonatal Screen. 2018 Dec 12;4(4):40. doi: 10.3390/ijns4040040. eCollection 2018 Dec.
Int J Neonatal Screen. 2018.
PMID: 33072960
Free PMC article.
Review.
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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. Among authors: kemper ea.
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.
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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. Among authors: kemper ea.
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.
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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.
Wiltink RC, et al. Among authors: kemper ea.
Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.
Eur J Hum Genet. 2016.
PMID: 27329734
Free PMC article.
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Sarcoidosis-related hypercalcaemia due to production of parathyroid hormone-related peptide.
van Raalte DH, Goorden SM, Kemper EA, Brosens LA, ten Kate RW.
van Raalte DH, et al. Among authors: kemper ea.
BMJ Case Rep. 2015 Jul 9;2015:bcr2015210189. doi: 10.1136/bcr-2015-210189.
BMJ Case Rep. 2015.
PMID: 26160550
Free PMC article.
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