المؤلفون: Bart Ferwerda, Matthew B B McCall, Maaike C de Vries, Joost Hopman, Boubacar Maiga, Amagana Dolo, Ogobara Doumbo, Modibo Daou, Dirk de Jong, Leo A B Joosten, Rudi A Tissingh, Frans A G Reubsaet, Robert Sauerwein, Jos W M van der Meer, André J A M van der Ven, Mihai G Netea

المصدر: PLoS ONE, Vol 4, Iss 9, p e6870 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2730527?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/faed8cf463554ff9a2e53058ef784950

المؤلفون: Jorrit Broertjes, Eelco Franz, Ingrid H.M. Friesema, Hugo-Jan Jansen, Frans A.G. Reubsaet, Saskia A. Rutjes, Cornelis Stijnis, Bettie C.G. Voordouw, Maaike C. de Vries, Daan W. Notermans, Martin P. Grobusch

المصدر: Emerging Infectious Diseases, Vol 29, Iss 7, Pp 1-9 (2023)

مصطلحات موضوعية: epidemiology, pathogens, bacteria, viruses, diseases, biosecurity, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://wwwnc.cdc.gov/eid/article/29/7/22-1769_article; https://doaj.org/toc/1080-6040; https://doaj.org/toc/1080-6059

URL الوصول: https://doaj.org/article/7768026d03fe4459975ece6e2f46724f

المؤلفون: Jelmer Savelkoel, Rita O. Oladele, Chiedozie K. Ojide, Rebecca F. Peters, Daan W. Notermans, Justina O. Makinwa, Maaike C. de Vries, Marion A.E. Sunter, Sébastien Matamoros, Nasiru Abdullahi, Uche S. Unigwe, Alani S. Akanmu, W. Joost Wiersinga, Emma Birnie

المصدر: Emerging Infectious Diseases, Vol 29, Iss 5, Pp 1073-1075 (2023)

مصطلحات موضوعية: Burkholderia pseudomallei, Burkholderia thailandensis, melioidosis, Nigeria, environmental study, bacteria, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://wwwnc.cdc.gov/eid/article/29/5/22-1138_article; https://doaj.org/toc/1080-6040; https://doaj.org/toc/1080-6059

URL الوصول: https://doaj.org/article/03516753033d43eba839d596bab8d47d

المؤلفون: Kim F. E. van de Loo, José A. E. Custers, Lonneke de Boer, Marloes van Lieshout, Maaike C. de Vries, Mirian C. H. Janssen, Christianne M. Verhaak

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Mitochondrial disease, Disease manifestation, Cognitive functioning, Attention, Working memory, Mental health, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a91dc9e002d3423d97704136540b7109

المؤلفون: Jolianne M. Rijks, Anna D. Tulen, Daan W. Notermans, Frans A.G. Reubsaet, Maaike C. de Vries, Miriam G.J. Koene, Corien M. Swaan, Miriam Maas

المصدر: Emerging Infectious Diseases, Vol 28, Iss 4, Pp 883-885 (2022)

مصطلحات موضوعية: tularemia, Francisella tularensis, bacteria, zoonoses, human, transmission, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://wwwnc.cdc.gov/eid/article/28/4/21-1913_article; https://doaj.org/toc/1080-6040; https://doaj.org/toc/1080-6059

URL الوصول: https://doaj.org/article/690d18cede00467c96fb8039063cbe53

المؤلفون: Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100873- (2022)

مصطلحات موضوعية: Long-chain 3-keto-acyl CoA thiolase (LCKAT), Fatty acid oxidation disorder, HADHB, Cardiomyopathy, MTP, Ketones, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000337; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/951d3f5cefdf44feb0d7f388e71af87c

المؤلفون: Maaike C. de Vries, B. J. A. Hoeve-Bakker, Maaike J. C. van den Beld, Amber C. A. Hendriks, Airien S. D. Harpal, Ramón C. E. A. Noomen, Frans A. G. Reubsaet

المصدر: Microorganisms, Vol 11, Iss 4, p 905 (2023)

مصطلحات موضوعية: tularemia, MALDI-TOF MS, biomarkers, in-house library, Francisella, identification, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-2607/11/4/905; https://doaj.org/toc/2076-2607

URL الوصول: https://doaj.org/article/ff55185400db4d77b3e2a501ed9d6a25

المؤلفون: Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser

المساهمون: Pediatrics, Clinical chemistry, ACS - Diabetes & metabolism, Paediatric Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, ACS - Heart failure & arrhythmias, Laboratory for General Clinical Chemistry, Paediatrics, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818

مصطلحات موضوعية: mitochondrial trifunctional protein complex, Mitochondrial Trifunctional Protein, newborn screening, LCKAT deficiency, Infant, Newborn, LCHAD deficiency, 3-Hydroxyacyl CoA Dehydrogenases, Mitochondrial Myopathies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Hypoglycemia, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Neonatal Screening, MTP deficiency, Genetics, Humans, Nervous System Diseases, long-chain fatty acid oxidation, Cardiomyopathies, Molecular Biology, Genetics (clinical), Netherlands, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac31efe736b5ab73a20fdbf76edccd1
https://doi.org/10.1002/jimd.12502

المؤلفون: Jolianne M. Rijks, Anna D. Tulen, Daan W. Notermans, Frans A.G. Reubsaet, Maaike C. de Vries, Miriam G.J. Koene, Corien M. Swaan, Miriam Maas

المصدر: Emerging Infectious Diseases, 28(4), 883-885
Emerging Infectious Diseases 28 (2022) 4

مصطلحات موضوعية: Host Pathogen Interaction & Diagnostics, Microbiology (medical), Epidemiology, Bacteriologie, the Netherlands, transmission, Bacteriology, Bacteriology, Host Pathogen Interaction & Diagnostics, Host Pathogen Interactie & Diagnostiek, tularemia, zoonoses, Infectious Diseases, Bacteriologie, Host Pathogen Interactie & Diagnostiek, Animals, Humans, Life Science, human, ecology, Francisella tularensis, bacteria, Netherlands

وصف الملف: application/octet-stream; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32afe8da3768a7961f8283826146788c
http://hdl.handle.net/10029/626406

المؤلفون: Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F.H. Engelke, Leo A.J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W. van Bon, Erika Leenders, Elisabeth A.M. Cornelissen, Charlotte A. Haaxma, Jolanda H. Schieving, M. Estela Rubio-Gozalbo, Irene M.L.W. Körver-Keularts, Lara M. Marten, Susann Diegmann, Jeroen Mourmans, Alexander J.M. Rennings, Clara D.M. van Karnebeek, Richard J. Rodenburg, Karlien L.M. Coene

المساهمون: Pediatrics, Graduate School, Paediatric Pulmonology, Paediatric Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Genetics in Medicine, 25(1), 125-134. Lippincott Williams and Wilkins
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134

مصطلحات موضوعية: Exome sequencing, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Metabolomics, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Inborn errors of metabolism, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Functional test, Genome sequencing, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af089065fb3e1c4e83410f8c0f4dca8
https://pubmed.ncbi.nlm.nih.gov/36350326