المؤلفون: Arie O. Verkerk, Suzan J. G. Knottnerus, Vincent Portero, Jeannette C. Bleeker, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Connie R. Bezzina, Isabella Mengarelli, Riekelt H. Houtkooper

المصدر: Frontiers in Pharmacology, Vol 11 (2021)

مصطلحات موضوعية: very long-chain acyl-CoA dehydrogenase, arrhythmia < cardiovascular, acylcarnitines, action potential, human induced pluripotent stem cell derived cardiomyocytes, patients, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2020.616834/fullTest; https://doaj.org/toc/1663-9812Test

الوصول الحر: https://doaj.org/article/9bf15979cc1e485ca8dbed0f9ba01156Test

المؤلفون: Suzan J. G. Knottnerus, Isabella Mengarelli, Rob C. I. Wüst, Antonius Baartscheer, Jeannette C. Bleeker, Ruben Coronel, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Wener Li, Xiaojing Luo, Vincent M. Portero, Ying Ulbricht, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Arie O. Verkerk, Riekelt H. Houtkooper, Connie R. Bezzina

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 7, p 2589 (2020)

مصطلحات موضوعية: VLCADD, arrhythmias, hiPSC, acylcarnitines, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/21/7/2589Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/9291905b068a4faa9e19d8a94197632aTest

المؤلفون: Lodewijk IJlst, Loek L. Crefcoeur, Riekelt H. Houtkooper, Jeannette C. Bleeker, Frédéric M. Vaz, Sacha Ferdinandusse, Johannes B. van Goudoever, Dewi van Harskamp, Henk Schierbeek, Suzan J. G. Knottnerus, Frits A. Wijburg, Ronald J.A. Wanders, Gepke Visser, Mirjam Langeveld

المساهمون: Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Methodology, APH - Quality of Care, ARD - Amsterdam Reproduction and Development, General Paediatrics, Neonatology, ACS - Diabetes & metabolism, Endocrinology, Laboratory for General Clinical Chemistry, Paediatric Metabolic Diseases, APH - Personalized Medicine, ACS - Heart failure & arrhythmias

المصدر: Clinical nutrition (Edinburgh, Scotland), 40(3), 1396-1404. Churchill Livingstone

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, 030209 endocrinology & metabolism, Critical Care and Intensive Care Medicine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Oxidation, medicine, Humans, Isotope ratio mass spectrometry, Medium-chain triglyceride, Triglycerides, chemistry.chemical_classification, Meal, Carbon Isotopes, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, Stable isotope ratio, Fatty acid chain-elongation, Fatty Acids, Lipid kinetics, Fatty acid, Medium-chain fatty acids, Carbon Dioxide, Diet, Enzyme, Endocrinology, chemistry, Breath Tests, Healthy individuals, Isotope Labeling, Caprylates, Energy source, business, Oxidation-Reduction, Blinded study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9491aaa42e0e6f52b8e94b1bf18fafdaTest
https://doi.org/10.1016Test/j.clnu.2020.08.032

المؤلفون: Suzan J. G. Knottnerus, Henk Schierbeek, Gepke Visser, Johannes B. van Goudoever, Dewi van Harskamp

المساهمون: Graduate School, APH - Methodology, APH - Quality of Care, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AR&D - Amsterdam Reproduction & Development, Laboratory Genetic Metabolic Diseases, Neonatology, General Paediatrics

المصدر: Analytical and Bioanalytical Chemistry
Analytical and bioanalytical chemistry, 412(23), 5789-5797. Springer Verlag

مصطلحات موضوعية: Coefficient of variation, Mass spectrometry, 01 natural sciences, Biochemistry, Gas Chromatography-Mass Spectrometry, Analytical Chemistry, 03 medical and health sciences, chemistry.chemical_compound, Limit of Detection, Tandem Mass Spectrometry, Humans, Elongation, 030304 developmental biology, Stable isotopes, chemistry.chemical_classification, 0303 health sciences, Chromatography, Triglyceride, Chemistry, Stable isotope ratio, Isobutanol, 010401 analytical chemistry, Fatty acid, Reproducibility of Results, Transesterification, Reference Standards, Medium-chain triglycerides, 0104 chemical sciences, Gas chromatography–mass spectrometry, Caprylates, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2677f818f96e2fe78354a41c9d1375baTest
http://www.scopus.com/inward/record.url?scp=85087675909&partnerID=8YFLogxKTest

المؤلفون: Frits A. Wijburg, Connie R. Bezzina, Suzan J. G. Knottnerus, Xiaojing Luo, Antonius Baartscheer, Kaomei Guan, Wener Li, Sacha Ferdinandusse, Ronald J.A. Wanders, Ying Ulbricht, Rob C. I. Wüst, Riekelt H. Houtkooper, Isabella Mengarelli, Gepke Visser, Ruben Coronel, Vincent Portero, Jeannette C. Bleeker, Lodewijk IJlst, Arie O. Verkerk

المساهمون: Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Cardiology, ACS - Heart failure & arrhythmias, ACS - Diabetes & metabolism, AMS - Ageing & Morbidty, Laboratory for General Clinical Chemistry, Paediatric Metabolic Diseases, Medical Biology, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, APH - Methodology, APH - Aging & Later Life

المصدر: International journal of molecular sciences, 21(7):2589. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, Vol 21, Iss 2589, p 2589 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 7

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial Diseases, Action Potentials, 030204 cardiovascular system & hematology, Resveratrol, Mitochondrion, Arrhythmias, hiPSC, lcsh:Chemistry, chemistry.chemical_compound, 0302 clinical medicine, Congenital Bone Marrow Failure Syndromes, Myocytes, Cardiac, Induced pluripotent stem cell, Beta oxidation, lcsh:QH301-705.5, Spectroscopy, health care economics and organizations, chemistry.chemical_classification, Chemistry, Acyl-CoA Dehydrogenase, Long-Chain, Fatty Acids, General Medicine, Computer Science Applications, Mitochondria, VLCADD, Oxidation-Reduction, Intracellular, Acylcarnitines, medicine.medical_specialty, Induced Pluripotent Stem Cells, Catalysis, Lipid Metabolism, Inborn Errors, Article, Inorganic Chemistry, 03 medical and health sciences, Muscular Diseases, Internal medicine, medicine, Humans, Physical and Theoretical Chemistry, Molecular Biology, Organic Chemistry, Fatty acid, Arrhythmias, Cardiac, 030104 developmental biology, Endocrinology, lcsh:Biology (General), lcsh:QD1-999, Epoxy Compounds, Cardiac Electrophysiology, Biogenesis, Etomoxir

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1048994c1c7de653958d78caa5e5c907Test
https://pure.amc.nl/en/publications/electrophysiological-abnormalities-in-vlcad-deficient-hipsccardiomyocytes-can-be-improved-by-lowering-accumulation-of-fatty-acid-oxidation-intermediatesTest(7408927f-4407-47ac-bfe0-fd5a7be0c915).html

المؤلفون: Suzan J. G. Knottnerus, Lodewijk IJlst, Heleen te Brinke, Frits A. Wijburg, Naomi van Vlies, Stephanie C. M. Nijmeijer

المصدر: Annals of Neurology. 82:686-696

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mucopolysaccharidosis, Progressive neurodegenerative disorder, Biology, medicine.disease, Bioinformatics, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mucopolysaccharidosis III, Early prediction, medicine, Missense mutation, Neurology (clinical), Young adult, Mucopolysaccharidosis Type IIIA, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4792469a3cb7be92fe42c951fda673aeTest
https://doi.org/10.1002/ana.25069Test

المؤلفون: Sacha Ferdinandusse, Riekelt H. Houtkooper, Lodewijk IJlst, Rob C. I. Wüst, Gepke Visser, Jeannette C. Bleeker, Ronald J.A. Wanders, Suzan J. G. Knottnerus, Frits A. Wijburg

المصدر: Knottnerus, S J G, Bleeker, J C, Wüst, R C I, Ferdinandusse, S, IJlst, L, Wijburg, F A, Wanders, R J A, Visser, G & Houtkooper, R H 2018, ' Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle ', Reviews in endocrine & metabolic disorders, vol. 19, pp. 93-106 . https://doi.org/10.1007/s11154-018-9448-1Test
Reviews in Endocrine & Metabolic Disorders
Reviews in Endocrine and Metabolic Disorders, 19(1), 93. Springer Netherlands

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Review, Carnitine shuttle, Inborn errors of metabolism, Article, Carnitine transport, 03 medical and health sciences, Endocrinology, Carnitine, Internal medicine, Journal Article, medicine, Animals, Humans, Beta oxidation, Newborn screening, business.industry, Catabolism, Fatty Acids, Hypoketotic hypoglycemia, ß-oxidation, medicine.disease, Mitochondria, Diabetes and Metabolism, 030104 developmental biology, Mitochondrial long-chain fatty acid oxidation, β-oxidation, Long chain fatty acid, business, Rhabdomyolysis, Metabolism, Inborn Errors

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a8018105e2e4ab963e68048f32c01cTest
https://research.vu.nl/en/publications/bde5cc03-e63e-4ca7-aeec-2f07238fc017Test

المؤلفون: Frits A. Wijburg, Stephanie C. M. Nijmeijer, Naomi van Vlies, Suzan J. G. Knottnerus

المصدر: Molecular Genetics and Metabolism. 120:S103

مصطلحات موضوعية: Andrology, Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Biology, Residual, Molecular Biology, Biochemistry, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5009a8b4cdefbae4b57770a95d4d9f3eTest
https://doi.org/10.1016Test/j.ymgme.2016.11.259