Výsledky vyhledávání - "Evelien A. Kemper"

Akademický článek

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

Autor: Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch

Publikováno v: JIMD Reports, Vol 54, Iss 1, Pp 68-78 (2020)

Abstract Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hou

Externí odkaz: https://doaj.org/article/7f7bd064509b48dcadfaf828dc4a8fe7

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Akademický článek

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

Autor: Maartje Blom, Robbert G.M. Bredius, Gert Weijman, Eugènie H.B.M. Dekkers, Evelien A. Kemper, M. Elske van den Akker-van Marle, Catharina P.B. van der Ploeg, Mirjam van der Burg, Peter C.J.I. Schielen

Publikováno v: International Journal of Neonatal Screening, Vol 4, Iss 4, p 40 (2018)

The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to inc

Externí odkaz: https://doaj.org/article/dc60923938e449daaa21234bbf859945

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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

Autor: M. E. Rubio-Gozalbo, Annemieke C. Heijboer, Gepke Visser, Bernadette S. Jakobs, Kevin Stroek, Margot F. Mulder, Monique Williams, Francjan J. van Spronsen, Marelle J. Bouva, Evelien A. Kemper, Rose Maase, Monique G.M. de Sain-van der Velden, Anita Boelen, Maaike de Vries, Peter C. J. I. Schielen, Henk Engel, Annet M. Bosch, Leo A. J. Kluijtmans

Publikováno v: JIMD Reports, 54(1), 68-78. Springer Berlin
Journal of Inherited Metabolic Disease, 54, 68-78. Springer Netherlands
JIMD Reports, Vol 54, Iss 1, Pp 68-78 (2020)
JIMD reports, 54(1), 68-78. Springer
Jimd Reports, 54, 68-78
JIMD reports, 54(1), 68-78. Springer Berlin
Jimd Reports, 54, 1, pp. 68-78
JIMD Reports
Stroek, K, Boelen, A, Bouva, M J, De Sain-van der Velden, M, Schielen, P C J I, Maase, R, Engel, H, Jakobs, B, Kluijtmans, L A J, Mulder, M F, Rubio-Gozalbo, M E, van Spronsen, F J, Visser, G, de Vries, M C, Williams, M, Heijboer, A C, Kemper, E A & Bosch, A M 2020, ' 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 ', JIMD Reports, vol. 54, no. 1, pp. 68-78 . https://doi.org/10.1002/jmd2.12124

Contains fulltext : 225118.pdf (Publisher’s version ) (Open Access) Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1eb42a02fa6e57493411ff01609983c
https://doi.org/10.1002/jmd2.12124

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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

Publikováno v: The Journal of clinical endocrinology and metabolism, 106(11), E4487-E4496. The Endocrine Society
Journal of clinical endocrinology and metabolism, 106(11), E4487-E4496. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 106, e4487-e4496
Stroek, K, Ruiter, A, van der Linde, A, Ackermans, M, Bouva, M J, Engel, H, Jakobs, B, Kemper, E A, van den Akker, E L T, van Albada, M E, Bocca, G, Finken, M J J, Hannema, S E, Mieke Houdijk, E C A, van der Kamp, H J, van Tellingen, V, Paul van Trotsenburg, A S, Zwaveling-Soonawala, N, Bosch, A M, de Jonge, R, Heijboer, A C, Claahsen-van der Grinten, H L & Boelen, A 2021, ' Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands : A Newborn Screening Pilot Study ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 11, pp. E4487-E4496 . https://doi.org/10.1210/clinem/dgab464
Journal of Clinical Endocrinology and Metabolism, 106(11), e4487-e4996. ENDOCRINE SOC
Journal of Clinical Endocrinology and Metabolism, 106(11), E4487-E4496. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 106, 11, pp. e4487-e4496

Context Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age–adjusted cutoffs. A second heel puncture (HP) is performed in newborns with inconclusive r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ee7993770982c91f946003f91c388e
https://pubmed.ncbi.nlm.nih.gov/34171085

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Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

Autor: Joris M. van Montfrans, Eugènie H. B. M. Dekkers, Gert Weijman, Lidewij Henneman, Clementien L. Vermont, Wouter Koole, Martine C. de Vries, Willem A. Dik, Robbert G. M. Bredius, Peter C. J. I. Schielen, Marleen E. Jansen, Mirjam van der Burg, Arjan C. Lankester, Koen J. van Aerde, Stefanie S. V. Henriet, Marielle E. van Gijn, Maartje Blom, Evelien A. Kemper, Iris H.I.M. Hollink

Publikováno v: Journal of Clinical Immunology, 1-10. SPRINGER/PLENUM PUBLISHERS
STARTPAGE=1;ENDPAGE=10;ISSN=0271-9142;TITLE=Journal of Clinical Immunology
Journal of Clinical Immunology, 41, 99-108
Journal of clinical immunology, 41(1), 99-108. Springer New York
Journal of Clinical Immunology, 41, 1, pp. 99-108
Journal of Clinical Immunology, 41(1), 99-108. SPRINGER/PLENUM PUBLISHERS
Journal of Clinical Immunology, 41(1), 99-108. Springer New York
on behalf of the SONNET-Study Group 2021, ' Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands ', Journal of clinical immunology, vol. 41, no. 1, pp. 99-108 . https://doi.org/10.1007/s10875-020-00886-4
Journal of Clinical Immunology

PurposeWhile neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975dd0ef8b6986c5fbe63f5ce1db7a5b
https://research.rug.nl/en/publications/4d5f7403-2d4e-435c-b390-162aa2a10ccc

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Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

Autor: Eugènie H. B. M. Dekkers, M. Elske van den Akker-van Marle, Mirjam van der Burg, Peter C. J. I. Schielen, Robbert G. M. Bredius, Maartje Blom, Gert Weijman, Catharina P. B. Van der Ploeg, Evelien A. Kemper

Publikováno v: International Journal of Neonatal Screening, 4, 4
International Journal of Neonatal Screening, Vol 4, Iss 4, p 40 (2018)
International Journal of Neonatal Screening, 4(4)
International Journal of Neonatal Screening

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd38b30c1b5d6c8d2c57a278003d05f0
http://resolver.tudelft.nl/uuid:86d1bba0-3a4a-4cb5-a890-e700efee0889

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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Autor: Rachel C Wiltink, Rick van Minkelen, Evelien A. Kemper, Francjan J. van Spronsen, W. Onkenhout, Jasper J. Saris, Michelle E. Kruijshaar, Ans T. van der Ploeg, Monique Williams, Frans W. Verheijen, K. E. Niezen-Koning

Publikováno v: European Journal of Human Genetics, 24(10), 1424-1429
European Journal of Human Genetics, 24(10), 1424-1429. Nature Publishing Group

Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological symptoms. To prevent severe clinical presentations, it was included in the Dutch neonatal screening programme in 2007. Since then the number of cases det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8385a86987ad6a360e2fee3feb68b6
https://hdl.handle.net/1887/113981

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Autor: Daniel H, van Raalte, Susan M, Goorden, Evelien A, Kemper, Lodewijk A A, Brosens, Reinier W, ten Kate

Publikováno v: BMJ Case Reports [E], 2015. BMJ Publishing Group

Hypercalcaemia is frequently observed in patients with sarcoidosis. This is classically attributed to ectopic production of 1,25 dihydroxy vitamin D by sarcoid granulomas. We present a case of sarcoidosis-related hypercalcaemia with normal vitamin D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b14c2d24309300d702d74f0f647cf3b7
https://europepmc.org/articles/PMC4499713/

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Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Autor: Peter C. J. I. Schielen, Michael H. Gelb, Evelien A. Kemper

Publikováno v: International journal of neonatal screening

Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769a5ede4015067060baf2e4990e0cfe
https://doi.org/10.3390/ijns3020006

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