Publications by authors named "P C J I Schielen"

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 impressive impact factor of 3 [...

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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 on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all.

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Introduction and Abstracts of the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, CA, USA from 15-19 October 2023.

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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 five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013-2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry.

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Volume 8, issue 2, consists of 15 papers, viewed by around 1500-2000 readers [...

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