المؤلفون: Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje

المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/1073313437ec4eb190f04bb0c6441ddfTest

المؤلفون: Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom

المصدر: JIMD Reports, Vol 61, Iss 1, Pp 12-18 (2021)

مصطلحات موضوعية: MADD, newborn screening, riboflavin deficiency, VLCADD, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/cb91c53ae02a4567a0df7f2ee355599aTest

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

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/d052d767889e424bba5ce6198d1a2d46Test

المؤلفون: Rianne E. van Outersterp, Sam J. Moons, Udo F. H. Engelke, Herman Bentlage, Tessa M. A. Peters, Arno van Rooij, Marleen C. D. G. Huigen, Siebolt de Boer, Ed van der Heeft, Leo A. J. Kluijtmans, Clara D. M. van Karnebeek, Ron A. Wevers, Giel Berden, Jos Oomens, Thomas J. Boltje, Karlien L. M. Coene, Jonathan Martens

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/a3702831608e413ca3c44c8e50fdc0d3Test

المؤلفون: Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni

المصدر: Metabolites, Vol 11, Iss 9, p 568 (2021)

مصطلحات موضوعية: untargeted metabolomics, next-generation metabolic screening, inherited metabolic diseases, data analysis, mass spectrometry, bioinformatics pipeline, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-1989/11/9/568Test; https://doaj.org/toc/2218-1989Test

الوصول الحر: https://doaj.org/article/e09c0be30392434688b1e4c9754a1462Test

المؤلفون: Rianne E. van Outersterp (8468046), Udo F. H. Engelke (10455663), Jona Merx (10455659), Giel Berden (8468019), Mathias Paul (10455651), Thomas Thomulka (10455650), Albrecht Berkessel (10455560), Marleen C. D. G. Huigen (10455558), Leo A. J. Kluijtmans (10455557), Jasmin Mecinović (10455556), Floris P. J. T. Rutjes (6179317), Clara D.M. van Karnebeek (10455554), Ron A. Wevers (10455552), Thomas J. Boltje (6179320), Karlien L.M. Coene (10455551), Jonathan Martens (10447997), Jos Oomens (8071449)

مصطلحات موضوعية: Organic Synthesis and Reactions, Mass Spectrometry, Spectroscopy (Anal. Chem.), Biochemistry, Computational Chemistry and Modeling, Metabolite identification, Infrared Ion Spectroscopy, Small Molecule Identification, Untargeted Metabolomics, molecular structure analysis, pyridoxine-dependent epilepsy, lysine metabolism, α-aminoadipic semialdehyde (α-AASA) dehydrogenase

العلاقة: https://figshare.com/articles/preprint/Metabolite_Identification_Using_Infrared_Ion_Spectroscopy_Novel_Biomarkers_for_Pyridoxine-Dependent_Epilepsy/14315579Test

الإتاحة: https://doi.org/10.26434/chemrxiv.14315579.v1Test

المؤلفون: Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), MUMC+: Academisch Ziekenhuis Maastricht (0), MUMC+: DA KG Lab Specialisten (9), RS: Carim - H02 Cardiomyopathy, MUMC+: DA CDL Algemeen (9)

المصدر: Communications Biology, 5(1):997. Nature Publishing Group
Communications Biology, 5, 1-8
Communications Biology, 5, 1, pp. 1-8

مصطلحات موضوعية: FELIX Molecular Structure and Dynamics, Pyridoxal, Proline, Inborn Errors, Medicine (miscellaneous), Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Synthetic Organic Chemistry, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], General Biochemistry, Genetics and Molecular Biology, Phosphates, Amino Acid Metabolism, 1-Pyrroline-5-Carboxylate Dehydrogenase, Proline/metabolism, All institutes and research themes of the Radboud University Medical Center, Proline Oxidase, Pyrroles, 1-Pyrroline-5-Carboxylate Dehydrogenase/deficiency, General Agricultural and Biological Sciences, Proline Oxidase/genetics, Amino Acid Metabolism, Inborn Errors, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc95a01bd273c08093fa8d2871bb363Test
https://hdl.handle.net/2066/282704Test

المؤلفون: Joseph J. Shen, Johannes Koch, Lonneke de Boer, Saskia B. Wortmann, Leo A. J. Kluijtmans, Christin D. Collins, Marleen C. D. G. Huigen, Clara D.M. van Karnebeek, Madhuri R Hegde, Robin van der Lee, Stephanie Ross

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Genetics in Medicine, 23, 3, pp. 581-585
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Genomics, Disease, clinical genetic testing, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, medicine, Medical diagnosis, variant classification, interpretation, Genetics (clinical), Genetic testing, treatable human conditions, medicine.diagnostic_test, Molecular pathology, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Pathogenicity, 2015 ACMG/AMP guidelines, Response to treatment, 030104 developmental biology, Medical genetics, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c7b5dfc2de50bbdb453a20f799c094Test
https://doi.org/10.1038/s41436-020-00996-9Test

المؤلفون: Clara D.M. van Karnebeek, Marleen C. D. G. Huigen, Albrecht Berkessel, Jonathan Martens, Karlien L.M. Coene, Udo F. H. Engelke, Jasmin Mecinović, Jos Oomens, Thomas J. Boltje, Leo A. J. Kluijtmans, Mathias Paul, Ron A. Wevers, Thomas Thomulka, Jona Merx, Floris P. J. T. Rutjes, Giel Berden, Rianne E. van Outersterp

المساهمون: ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Molecular Spectroscopy (HIMS, FNWI)

المصدر: Analytical chemistry, 93(46), 15340-15348. American Chemical Society
Analytical Chemistry
Analytical Chemistry, 93, 15340-15348
Analytical Chemistry, 93, 46, pp. 15340-15348
van Outersterp, R E, Engelke, U F H, Merx, J, Berden, G, Paul, M, Thomulka, T, Berkessel, A, Huigen, M C D G, Kluijtmans, L A J, Mecinović, J, Rutjes, F P J T, van Karnebeek, C D M, Wevers, R A, Boltje, T J, Coene, K L M, Martens, J & Oomens, J 2021, ' Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy ', Analytical chemistry, vol. 93, no. 46, pp. 15340-15348 . https://doi.org/10.1021/acs.analchem.1c02896Test
Analytical Chemistry, 93(46), 15340-15348. American Chemical Society

مصطلحات موضوعية: Metabolite, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Synthetic Organic Chemistry, Computational biology, 01 natural sciences, Article, Analytical Chemistry, 03 medical and health sciences, chemistry.chemical_compound, All institutes and research themes of the Radboud University Medical Center, Metabolomics, medicine, Humans, Dried blood, Pyridoxine-dependent epilepsy, 030304 developmental biology, Pipecolic acid, FELIX Molecular Structure and Dynamics, 0303 health sciences, Newborn screening, Epilepsy, 010401 analytical chemistry, Infant, Newborn, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Aldehyde Dehydrogenase, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, 0104 chemical sciences, 3. Good health, chemistry, Identification (biology), IRIS (biosensor), Epilepsy/diagnosis, Biomarkers, Chromatography, Liquid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d22b5c37d51583699a7fab249b2183Test
https://hdl.handle.net/2066/242553Test

المؤلفون: Laura A Tseng, Udo F H Engelke, Marleen C D G Huigen, Leo A J Kluijtmans, Charlotte A Haaxma, David A Koolen, Levinus A Bok, Jason N Wright, Sidney M Gospe, Mirian C H Janssen, Clara D M van Karnebeek, Karlien L M Coene

المساهمون: Paediatrics, Paediatric Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Clinical chemistry, 68(5), 732-735. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 68, 5, pp. 732-735
Clinical Chemistry, 68, 732-735

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Adolescent, Biochemistry (medical), Clinical Biochemistry, biomarkers, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], untargeted metabolomics, inherited metabolic disorders, Phenotype, Intellectual Disability, pyridoxine dependent epilepsy, Humans, Mass Screening

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fff88a6934691d1e94749a124286769Test
https://pubmed.ncbi.nlm.nih.gov/36189752Test