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1دورية أكاديمية
المؤلفون: Daphne C. Rohrich, Eline H. M. van de Wetering, Alexander J. Rennings, Elke E. Arts, Inger L. Meek, Alfons A. den Broeder, Jaap Fransen, Calin D. Popa
المصدر: Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: Rheumatoid arthritis, Cardiovascular, Risk factors, Age, Gender, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1478-6362
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2دورية أكاديمية
المؤلفون: Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming
المصدر: Haematologica, Vol 103, Iss 12 (2018)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Annet M. Bosch, Susan M. I. Goorden, Alexander J. Rennings, Irene M. L. W. Körver-Keularts, Mirjam M.C. Wamelink, Frédéric M. Vaz, Amber E. ten Hoedt, C. Timmer, Francjan J. van Spronsen, George J. G. Ruijter, Mirian C. H. Janssen, Karlien L.M. Coene, Hubertus C.M.T. Prinsen, M. Rebecca Heiner-Fokkema, Carla E. M. Hollak
المساهمون: Endocrinology, Laboratory Genetic Metabolic Diseases, Neurology, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, APH - Personalized Medicine, APH - Methodology, Clinical Genetics, Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: JIMD reports, 58(1), 70-79. Springer Berlin
Jimd Reports, 58, 1, pp. 70-79
JIMD Reports
Jimd Reports, 58, 70-79
JIMD Reports, 58(1), 70-79. Springer-Verlag
JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)
JIMD Reports, 58(1), 70-79مصطلحات موضوعية: Research Report, lcsh:QH426-470, phenylalanine, Endocrinology, Diabetes and Metabolism, Operating procedures, phenylketonuria, DBS, Phenylalanine, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], bloodspot, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, Mean difference, Hyperphenylalaninemia, SDG 3 - Good Health and Well-being, Internal Medicine, Medicine, Chromatography, lcsh:RC648-665, hyperphenylalaninemia, business.industry, Pre analytical, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Research Reports, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Venous blood, medicine.disease, Dried blood spot, lcsh:Genetics, surgical procedures, operative, PKU, Plasma concentration, laboratory variation, measurement, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fdcd1d3c3e86412da8173e330d77578
https://pure.amc.nl/en/publications/monitoring-phenylalanine-concentrations-in-the-followup-of-phenylketonuria-patients-an-inventory-of-preanalytical-and-analytical-variation(f184e93d-11fa-4cad-8427-4e2e3c3d6ffe).html -
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المؤلفون: Lee Hilliard, Joëlle Rudinger-Thirion, Alexander J. Rennings, Magali Frugier, Richard J. Roodenburg, Lisa G. Riley, Leonor Arenillas, David P. Steensma, Josep Fita-Torró, Elie Bechara, Mark D. Fleming, Sylvia S. Bottomley, Gregory A. Hale, Janet L. Kwiatkowski, Rienk Y. J. Tamminga, Ronghao Zhou, Dean R. Campagna, Joel Kaplan, Miguel R. Abboud, Matthew M. Heeney, Colin A. Sieff, Nicolaas Schaap, Rasha Ahmed, John Christodoulou, Dorine W. Swinkels, Gerwin Huls, Mayka Sanchez, Tjitske Kleefstra, Roula Farah, Annet Simons
المساهمون: Stem Cell Aging Leukemia and Lymphoma (SALL), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Genetic Metabolic Disorders Research Unit, Westmead Hospital [Sydney]-Kids Research Institute, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Balamand University Medical School, Westmead Hospital [Sydney]
المصدر: Haematologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015مصطلحات موضوعية: 0301 basic medicine, Anemia, [SDV]Life Sciences [q-bio], Anèmia, TRANSFER-RNA SYNTHETASE, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Germline mutation, Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience [Radboudumc 7], Sideroblastic anemia, Mitochondrial myopathy, medicine, Missense mutation, HETEROGENEITY, Allele, MUTATION, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, IDENTIFICATION, Cancer development and immune defence RIHS: Radboud Institute for Health Sciences [Radboudumc 2], Hematology, medicine.disease, Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 11], 3. Good health, Fenotip, Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 2], Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030104 developmental biology, Lactic acidosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33db39b676f24e3649b6850f1684f6a
https://doi.org/10.3324/haematol.2017.182659 -
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المؤلفون: Alfons A den Broeder, Alexander J. Rennings, Jaap Fransen, Elke Arts, Calin D. Popa, Inger L. Meek, Eline H. M. van de Wetering, Daphne C. Rohrich
المصدر: Arthritis Research & Therapy, 23, 1
Arthritis Research & Therapy, 23
Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-7 (2021)
Arthritis Research & Therapyمصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Younger age, lcsh:Diseases of the musculoskeletal system, Concordance, Cardiovascular, Arthritis, Rheumatoid, 03 medical and health sciences, 0302 clinical medicine, Age, All institutes and research themes of the Radboud University Medical Center, Internal medicine, medicine, Humans, In patient, Prospective Studies, Rheumatoid arthritis, Prospective cohort study, 030203 arthritis & rheumatology, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Gender, medicine.disease, INCEPTION COHORT, Rheumatology, 030104 developmental biology, Risk factors, Cardiovascular Diseases, Heart Disease Risk Factors, Orthopedic surgery, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Female, lcsh:RC925-935, business, Research Article
وصف الملف: application/pdf
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المؤلفون: Mirjam van der Burg, Ivo Peters, Grazia M.S. Mancini, Corry M.R. Weemaes, Bart P.C. van de Warrenburg, Sanami Takada, Erik-Jan Kamsteeg, Sjoert A. H. Pegge, Judith van Gaalen, Marc Engelen, Mark R. Garrelfs, Michèl A.A.P. Willemsen, Alexander J. Rennings
المساهمون: Pediatrics, Neurology, Paediatric Neurology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics
المصدر: Garrelfs, M R, Takada, S, Kamsteeg, E-J, Pegge, S, Mancini, G, Engelen, M, van de Warrenburg, B, Rennings, A, van Gaalen, J, Peters, I, Weemaes, C, van der Burg, M & Willemsen, M A 2020, ' The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort ', Pediatric Neurology, vol. 113, pp. 26-32 . https://doi.org/10.1016/j.pediatrneurol.2020.07.014
Pediatric Neurology, 113, 26-32. Elsevier Inc.
Pediatric neurology, 113, 26-32. Elsevier Inc.
Pediatric Neurology, 113, 26-32
Pediatric Neurology, 113, pp. 26-32
Pediatric Neurology, 113, 26-32. ELSEVIER SCIENCE INCمصطلحات موضوعية: Male, Microcephaly, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Disease, Bioinformatics, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, PNKP Polynucleotide kinase 3 '-phosphatase, Neoplasms, Oculomotor apraxia, Child, Immunodeficiency, Netherlands, Mutation, seizures and developmental delay, medicine.diagnostic_test, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phosphotransferases (Alcohol Group Acceptor), Phenotype, Neurology, Child, Preschool, Female, medicine.symptom, PNKP Polynucleotide kinase 3′-phosphatase, Ataxia, Adolescent, MCSZ microcephaly, seizures and developmental delay, DNA repair, MCSZ microcephaly, Context (language use), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, Developmental Neuroscience, Seizures, AOA4 ataxia with oculomotor apraxia type 4, 030225 pediatrics, medicine, Humans, Spinocerebellar Ataxias, Genetic Association Studies, Genetic testing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Immunologic Deficiency Syndromes, medicine.disease, DNA Repair Enzymes, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Ewout J. Hoorn, Tom Nijenhuis, Rachel P. L. van Swelm, Sanne van Raaij, Stephen B. Walsh, Bart J. Biemond, Dorine W. Swinkels, Saskia E M Schols, Erwin T. Wiegerinck, Hennie M.J. Roelofs, Alexander J. Rennings
المساهمون: Clinical Haematology, Internal Medicine, Internal medicine
المصدر: American journal of physiology. Renal physiology, 316(3), F606-F614. American Physiological Society
American Journal of Physiology-Renal Physiology, 316(3), F606-F614. American Physiological Society
American Journal of Physiology : Renal Physiology, 316, 606-614
American Journal of Physiology : Renal Physiology, 316, 3, pp. 606-614
van Raaij, S E G, Rennings, A J, Biemond, B J, Schols, S E M, Wiegerinck, E T G, Roelofs, H M J, Hoorn, E J, Walsh, S B, Nijenhuis, T, Swinkels, D W & van Swelm, R P L 2019, ' Iron handling by the human kidney: Glomerular filtration and tubular reabsorption both contribute to urinary iron excretion ', American Journal of Physiology-Renal Physiology, vol. 316, no. 3, pp. F606-F614 . https://doi.org/10.1152/ajprenal.00425.2018مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Iron Overload, Physiology, Urinary system, Iron, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], 030232 urology & nephrology, Kidney, Excretion, Kidney Tubules, Proximal, 03 medical and health sciences, 0302 clinical medicine, Renal tubular dysfunction, Internal medicine, medicine, Humans, chemistry.chemical_classification, biology, Transferrin saturation, Reabsorption, business.industry, urogenital system, Ferritin, 030104 developmental biology, Endocrinology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Transferrin, Renal physiology, biology.protein, Female, business, Glomerular Filtration Rate
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487dff9141f60a8d5eca1db9aa3fea14
https://pubmed.ncbi.nlm.nih.gov/30623722 -
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المؤلفون: Riekelt H. Houtkooper, Monique G.M. de Sain-van der Velden, Irene L. Kok, Mia L. Pras-Raves, Margot F. Mulder, Eugenie Dekkers, Monique Williams, Annet M. Bosch, Mirjam Langeveld, Marja A.G.C. Schoenmakers, Peter M. van Hasselt, Terry G J Derks, Peter J.C.I. Schielen, W. Ludo van der Pol, Ronald J.A. Wanders, Sacha Ferdinandusse, Frits A. Wijburg, Estela Rubio Gozalbo, Jeannette C. Bleeker, Gepke Visser, Alexander J. Rennings, Inge Cuppen, Hans R. Waterham, Maaike de Vries
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Graduate School, Paediatric Metabolic Diseases, Endocrinology, ACS - Diabetes & metabolism, Medical Microbiology and Infection Prevention, AII - Inflammatory diseases, APH - Methodology, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Aging & Later Life, ACS - Heart failure & arrhythmias, Pediatric surgery, Clinical chemistry, Pediatrics, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Journal of Inherited Metabolic Disease, 42, 414-423
Journal of Inherited Metabolic Disease, 42(3), 414. Springer Netherlands
Journal of inherited metabolic disease, 42(3), 414-423. Springer Netherlands
Journal of Inherited Metabolic Disease, 42(3), 414-423. Springer Netherlands
Journal of Inherited Metabolic Disease, 42, 3, pp. 414-423
Bleeker, J C, Kok, I L, Ferdinandusse, S, van der Pol, W L, Cuppen, I, Bosch, A M, Langeveld, M, Derks, T G J, Williams, M, de Vries, M, Mulder, M F, Gozalbo, E R, de Sain-van der Velden, M G M, Rennings, A J, Schielen, P J C I, Dekkers, E, Houtkooper, R H, Waterham, H R, Pras-Raves, M L, Wanders, R J A, van Hasselt, P M, Schoenmakers, M, Wijburg, F A & Visser, G 2019, ' Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes ', Journal of Inherited Metabolic Disease, vol. 42, no. 3, pp. 414-423 . https://doi.org/10.1002/jimd.12075
Journal of Inherited Metabolic Disease, 42(3), 414-423. Wileyمصطلحات موضوعية: Male, Mitochondrial Diseases, SYMPTOMS, Cardiomyopathy, PHENOTYPE, Gastroenterology, very-long-chain acyl-CoA dehydrogenase deficiency, Congenital Bone Marrow Failure Syndromes, Genetics(clinical), Longitudinal Studies, Beta oxidation, Genetics (clinical), fatty acid oxidation, Netherlands, 0303 health sciences, biology, 030305 genetics & heredity, Acyl-CoA Dehydrogenase, Long-Chain, food and beverages, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], DEFECTS, GENOTYPE, embryonic structures, Female, medicine.symptom, myopathy, medicine.medical_specialty, DISORDERS, Hypoglycemia, DIAGNOSIS, Asymptomatic, Lipid Metabolism, Inborn Errors, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, 03 medical and health sciences, Neonatal Screening, All institutes and research themes of the Radboud University Medical Center, Muscular Diseases, Internal medicine, medicine, Genetics, Journal Article, Humans, Myopathy, 030304 developmental biology, BIOLOGICAL FEATURES, Newborn screening, business.industry, MUTATIONS, newborn screening, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Infant, Newborn, medicine.disease, ACID BETA-OXIDATION, Enzyme assay, hypoglycemia, biology.protein, business, FOLLOW-UP, cardiomyopathy
وصف الملف: application/pdf; image/pdf
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المؤلفون: Andre J Vlot, Martine Raphael, L Thom Vlasveld, Tessa M. A. Peters, A. Birgitta Versluijs, Alexander J. Rennings, Dorine W. Swinkels, Bert van den Heuvel, Mirian C. H. Janssen, Frank L. van de Veerdonk, Michel van Gelder, Dirk L Bakkeren, Charlotte C.M. Schaap, Bernd Granzen, Anita W. Rijneveld, Paul P. T. Brons, V.M.J. Novotny, Albertine E. Donker, Inge M. Appel, R.J.H. Smeets, M.R. Nijziel
المساهمون: AII - Infectious diseases, Hematology, Pediatrics, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9)
المصدر: American Journal of Hematology, 91, E482-e490
Donker, A E, Schaap, C C M, Novotny, V M J, Smeets, R, Peters, T M A, van den Heuvel, B L P, Raphael, M F, Rijneveld, A W, Appel, I M, Vlot, A J, Versluijs, A B, van Gelder, M, Granzen, B, Janssen, M C H, Rennings, A J M, van de Veerdonk, F L, Brons, P P T, Bakkeren, D L, Nijziel, M R, Vlasveld, L T & Swinkels, D W 2016, ' Iron refractory iron deficiency anemia : a heterogeneous disease that is not always iron refractory ', American Journal of Hematology, vol. 91, no. 12, pp. E482-E490 . https://doi.org/10.1002/ajh.24561
American Journal of Hematology, 91(12), E482-E490. Wiley-Liss Inc.
American Journal of Hematology, 91(12), E482-E490. Wiley
American Journal of Hematology, 91, 12, pp. E482-e490
American Journal of Hematology, 91(12), E482. Wiley-Liss Inc.
American Journal of Hematologyمصطلحات موضوعية: Adult, Male, 0301 basic medicine, TMPRSS6, Adolescent, Anemia, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Biology, Young Adult, 03 medical and health sciences, Hepcidin, Genotype, E‐ONLY Articles, medicine, Journal Article, Humans, Child, Research Articles, Netherlands, Anemia, Iron-Deficiency, Transferrin saturation, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, Newborn, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Hematology, Iron deficiency, Middle Aged, medicine.disease, Hypochromic anemia, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Child, Preschool, Immunology, biology.protein, Female, Hemoglobin, Research Article
وصف الملف: image/pdf; application/pdf
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المؤلفون: Sacha Ferdinandusse, Monique G.M. de Sain-van der Velden, Hans R. Waterham, Peter M. van Hasselt, Maaike de Vries, Peter J.C.I. Schielen, Jeannette C. Bleeker, Terry G J Derks, Monique Williams, Alexander J. Rennings, Riekelt H. Houtkooper, Irene L. Kok, Ronald J.A. Wanders, Inge Cuppen, Marja A.G.C. Schoenmakers, Frits A. Wijburg, W. Ludo van der Pol, Mia L. Pras-Raves, Annet M. Bosch, Gepke Visser, Margot F Mulder, Eugenie Dekkers, Mirjam Langeveld, Estela Rubio Gozalbo
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: medicine.medical_specialty, Newborn screening, business.industry, Long term follow up, food and beverages, Hypoglycemia, medicine.disease, Asymptomatic, Dehydrogenase deficiency, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, Informed consent, Internal medicine, embryonic structures, medicine, In patient, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::73f92dd771cbc9de66211e421e3e20a8
https://doi.org/10.2139/ssrn.3258660
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