Peter C J I Schielen
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Explore the profile of Peter C J I Schielen including associated specialties, affiliations and a list of published articles.
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59
Citations
730
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Recent Articles
1.
Schielen P, Webster D, Loeber J, Bonham J
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982347
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism,...
2.
Schielen P
Int J Neonatal Screen
. 2024 Jun;
10(2).
PMID: 38920846
The (), founded in 2015 by the International Society for Neonatal Screening (ISNS), has quickly become the most important journal for scientific papers on neonatal screening, as indicated by an...
3.
Therrell B, Padilla C, Borrajo G, Khneisser I, Schielen P, Knight-Madden J, et al.
Int J Neonatal Screen
. 2024 Jun;
10(2).
PMID: 38920845
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria...
4.
Olney R, Bonham J, Schielen P, Slavin D, Ojodu J
Int J Neonatal Screen
. 2023 Oct;
9(4).
PMID: 37873845
Introduction and Abstracts of the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, CA, USA from 15-19 October 2023.
5.
Dijkstra A, Blaauw P, van Rijt W, Renting H, Maatman R, van Spronsen F, et al.
Int J Neonatal Screen
. 2023 Jul;
9(3).
PMID: 37489487
Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the...
6.
Schielen P
Int J Neonatal Screen
. 2023 May;
9(2).
PMID: 37218892
Volume 8, issue 2, consists of 15 papers, viewed by around 1500-2000 readers [...].
7.
Mlinaric M, Bonham J, Kozich V, Kolker S, Majek O, Battelino T, et al.
Int J Neonatal Screen
. 2023 Apr;
9(2).
PMID: 37092515
The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process...
8.
la Marca G, Carling R, Moat S, Yahyaoui R, Ranieri E, Bonham J, et al.
Int J Neonatal Screen
. 2023 Mar;
9(1).
PMID: 36975853
In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA....
9.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kolker S, et al.
Int J Neonatal Screen
. 2022 Jun;
8(2).
PMID: 35645285
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden....
10.
Veldman A, Kiewiet M, Heiner-Fokkema M, Nelen M, Sinke R, Sikkema-Raddatz B, et al.
Int J Neonatal Screen
. 2022 Mar;
8(1).
PMID: 35323196
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited...