Search Results - "Schielen, Peter"

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs by Schielen, Peter C J I, Kemper, Evelien A, Gelb, Michael H

“…Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of…”
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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands by Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam

“…Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS…”
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Metabolomics profiling for identification of novel potential markers in early prediction of preeclampsia by Kuc, Sylwia, Koster, Maria P H, Pennings, Jeroen L A, Hankemeier, Thomas, Berger, Ruud, Harms, Amy C, Dane, Adrie D, Schielen, Peter C J I, Visser, Gerard H A, Vreeken, Rob J

“…The first aim was to investigate specific signature patterns of metabolites that are significantly altered in first-trimester serum of women who subsequently…”
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Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots by Gelb, Michael H, Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C J I

“…All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities…”
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ISNS Celebrates International Neonatal Screening Day 2024 with a New IJNS CiteScore, a Global Report and a WHO Resolution by Schielen, Peter C J I

“…The ( ), founded in 2015 by the International Society for Neonatal Screening (ISNS), has quickly become the most important journal for scientific papers on…”
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The Editor's Choice for Issue 2, Volume 8 by Schielen, Peter C J I

“…Volume 8, issue 2, consists of 15 papers, viewed by around 1500-2000 readers [...]…”
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Maternal characteristics, mean arterial pressure and serum markers in early prediction of preeclampsia by Kuc, Sylwia, Koster, Maria P H, Franx, Arie, Schielen, Peter C J I, Visser, Gerard H A

“…In a previous study, we have described the predictive value of first-trimester Pregnancy-Associated Plasma Protein-A (PAPP-A), free β-subunit of human…”
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An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program by Blom, Maartje, Pico-Knijnenburg, Ingrid, Sijne-van Veen, Marja, Boelen, Anita, Bredius, Robbert G.M, van der Burg, Mirjam, Schielen, Peter C.J.I

“…Abstract Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of…”
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Evaluation of 7 Serum Biomarkers and Uterine Artery Doppler Ultrasound for First-Trimester Prediction of Preeclampsia: A Systematic Review by Kuc, Sylwia, Wortelboer, Esther J, van Rijn, Bas B, Franx, Arie, Visser, Gerard H. A, Schielen, Peter C. J. I

“…Preeclampsia (PE) affects 1% to 2% of pregnant women and is a leading cause of maternal and perinatal morbidity and mortality worldwide. The clinical syndrome…”
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Cost-effectiveness of newborn screening for severe combined immunodeficiency by Van der Ploeg, Catharina P. B., Blom, Maartje, Bredius, Robbert G. M., van der Burg, Mirjam, Schielen, Peter C. J. I., Verkerk, Paul H., Van den Akker-van Marle, M. Elske

“…Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth,…”
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by Loeber, J Gerard, Platis, Dimitris, Zetterström, Rolf H, Almashanu, Shlomo, Boemer, François, Bonham, James R, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D, Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C J I

“…Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then…”
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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis by Benn, Peter, Borrell, Antoni, Chiu, Rossa W. K., Cuckle, Howard, Dugoff, Lorraine, Faas, Brigitte, Gross, Susan, Huang, Tianhua, Johnson, Joann, Maymon, Ron, Norton, Mary, Odibo, Anthony, Schielen, Peter, Spencer, Kevin, Wright, Dave, Yaron, Yuval

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Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes by van Rijt, Willemijn J, Koolhaas, Geneviève D, Bekhof, Jolita, Heiner Fokkema, M Rebecca, de Koning, Tom J, Visser, Gepke, Schielen, Peter C J I, van Spronsen, Francjan J, Derks, Terry G J

“…Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified…”
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Predictive Performance of a Seven-Plex Antibody Array in Prenatal Screening for Down Syndrome by Rodenburg, Wendy, de Vries, Annemieke, Siljee, Jacqueline E., Koster, Maria P. H., Zutt, Ilse, Imholz, Sandra, Pennings, Jeroen L. A., Schielen, Peter C. J. I.

“…We evaluated the use of multiplex antibody array methodology for simultaneous measurement of serum protein markers for first trimester screening of Down…”
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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by la Marca, Giancarlo, Carling, Rachel S, Moat, Stuart J, Yahyaoui, Raquel, Ranieri, Enzo, Bonham, James R, Schielen, Peter C J I

“…In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for…”
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead by Veldman, Abigail, Kiewiet, Mensiena B G, Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R, Sinke, Richard J, Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E T, Schielen, Peter C J I, van Spronsen, Francjan J

“…Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is…”
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Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia by van der Linde, Annelieke A A, Schönbeck, Yvonne, van der Kamp, Hetty J, van den Akker, Erica L T, van Albada, Mirjam E, Boelen, Anita, Finken, Martijn J J, Hannema, Sabine E, Hoorweg-Nijman, Gera, Odink, Roelof J, Schielen, Peter C J I, Straetemans, Saartje, van Trotsenburg, Paul S, Claahsen-van der Grinten, Hedi L, Verkerk, Paul H

“…BackgroundIn 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the…”
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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H, Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C J I, Bonham, James R

“…Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and…”
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Explaining variation in Down's syndrome screening uptake: comparing the Netherlands with England and Denmark using documentary analysis and expert stakeholder interviews by Crombag, Neeltje M T H, Vellinga, Ynke E, Kluijfhout, Sandra A, Bryant, Louise D, Ward, Pat A, Iedema-Kuiper, Rita, Schielen, Peter C J I, Bensing, Jozien M, Visser, Gerard H A, Tabor, Ann, Hirst, Janet

“…The offer of prenatal Down's syndrome screening is part of routine antenatal care in most of Europe; however screening uptake varies significantly across…”
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Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots by Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., de Sain-van der Velden, Monique G.M.

“…Newborns who test positive for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) in newborn screening may have a severe phenotype with early onset of…”
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