المؤلفون: Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt

المصدر: JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)

مصطلحات موضوعية: epilepsy, GLS hyperactivity, glutamate, high‐throughput sequencing, phenotypic spectrum, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f

المؤلفون: Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: untargeted metabolomics, inherited metabolic diseases, direct-infusion high resolution mass spectrometry, biomarker, diagnostics, genetic diseases, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1283083/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/89486e7f1dfe48a3b0c77bddceeb9e23

المؤلفون: Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)

مصطلحات موضوعية: bloodspot, DBS, hyperphenylalaninemia, laboratory variation, measurement, phenylalanine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d052d767889e424bba5ce6198d1a2d46

المؤلفون: Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans

المصدر: Metabolites, Vol 10, Iss 5, p 206 (2020)

مصطلحات موضوعية: cross-omics, untargeted metabolomics, genomics, diagnostics, data integration, next-generation sequencing, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/10/5/206; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/0f1989cf6b244a9cb2ff3dced237e8fd

المؤلفون: Hanneke A. Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L. Pras-Raves, Hubertus C. M. T. Prinsen, Peter M. Van Hasselt, Monique G. M. De Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J. M. Jans

المصدر: Metabolites, Vol 9, Iss 1, p 12 (2019)

مصطلحات موضوعية: metabolomics, inborn errors of metabolism, direct-infusion mass spectrometry, IEM, DIMS, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2218-1989/9/1/12; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/f11723bf334b4ab69cbe6cb8e48d9633

المؤلفون: Monique G M, de Sain-van der Velden, Willemijn F E, Kuper, Marie-Anne, Kuijper, Lenneke A T, van Kats, Hubertus C M T, Prinsen, Astrid C J, Balemans, Gepke, Visser, Koen L I, van Gassen, Peter M, van Hasselt

المصدر: JIMD reports. 42

مصطلحات موضوعية: endocrine system, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72678a9f91955b7f75613a0d4839835e
https://pubmed.ncbi.nlm.nih.gov/29380259