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1دورية أكاديمية
المؤلفون: G. Biesbroek, B. Kapitein, I. M. Kuipers, M. P. Gruppen, D. van Stijn, T. E. Peros, M. van Veenendaal, M. H. A. Jansen, C. W. van der Zee, M. van der Kuip, E. G. J. von Asmuth, M. G. Mooij, M. E. J. den Boer, G. W. Landman, M. A. van Houten, D. Schonenberg-Meinema, A. M. Tutu van Furth, M. Boele van Hensbroek, H. Scherpbier, K. E. van Meijgaarden, T. H. M. Ottenhoff, S. A. Joosten, N. Ketharanathan, M. Blink, C. L. H. Brackel, H. L. Zaaijer, P. Hombrink, J. M. van den Berg, E. P. Buddingh, T. W. Kuijpers
المصدر: PLoS ONE, Vol 17, Iss 11 (2022)
وصف الملف: electronic resource
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المؤلفون: Lodewijk IJlst, Frits A. Wijburg, R. J. A. Wanders, M. A. Van Werkhoven, Hugo S. A. Heymans, M. E. J. Den Boer, M.G. van Pampus, W. Oostheim
المساهمون: Other departments
المصدر: Pediatric research, 48(2), 151-154. Lippincott Williams and Wilkins
مصطلحات موضوعية: HELLP Syndrome, medicine.medical_specialty, HELLP syndrome, Mitochondrial trifunctional protein, Hemolysis, Polymerase Chain Reaction, Sensitivity and Specificity, Loss of heterozygosity, Liver disease, Pregnancy, Internal medicine, Prevalence, medicine, Humans, Point Mutation, Allele, Netherlands, biology, Platelet Count, Genetic Carrier Screening, Incidence, Point mutation, Hypoketotic hypoglycemia, 3-Hydroxyacyl CoA Dehydrogenases, Exons, medicine.disease, Introns, Endocrinology, Pediatrics, Perinatology and Child Health, biology.protein, Etiology, Female, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase, Polymorphism, Restriction Fragment Length
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76bba2753979d5a50cb6262105b3da96
https://doi.org/10.1203/00006450-200008000-00006 -
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المؤلفون: P. Vreken, M. E. J. den Boer, A. H. van Gennip, Frits A. Wijburg, L. IJlst, Ronald J.A. Wanders
المساهمون: Other departments
المصدر: Journal of inherited metabolic disease, 22(4), 442-487. Springer Netherlands
مصطلحات موضوعية: chemistry.chemical_classification, Fatty Acids, Dehydrogenase, Metabolism, Mitochondrial trifunctional protein, Biology, Lipid Metabolism, Inborn Errors, Long-chain acyl-CoA dehydrogenase, Mitochondria, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, Acyl-CoA, chemistry.chemical_compound, Enzyme, Biochemistry, chemistry, Prenatal Diagnosis, Fatty Acids, Unsaturated, Genetics, biology.protein, Humans, Acyl Coenzyme A, Oxidation-Reduction, Beta oxidation, Genetics (clinical)
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المؤلفون: R. J. A. Wanders, Nadia A. Oey, Jos P.N. Ruiter, Hans R. Waterham, Kees Boer, Marinus Duran, J.A.M. van der Post, Frits A. Wijburg, M. E. J. Den Boer
المساهمون: Paediatric Metabolic Diseases, Laboratory Genetic Metabolic Diseases, Obstetrics and Gynaecology, Amsterdam Reproduction & Development (AR&D)
المصدر: Journal of inherited metabolic disease, 26(4), 385-392. Springer Netherlands
مصطلحات موضوعية: medicine.medical_specialty, Placenta, Biology, Acyl-CoA Dehydrogenase, Pregnancy, Internal medicine, Genetics, medicine, Humans, Beta oxidation, Genetics (clinical), chemistry.chemical_classification, Fetus, Carnitine O-Palmitoyltransferase, Fatty Acids, Acyl CoA dehydrogenase, Metabolism, medicine.disease, Pregnancy Complications, Enzyme, Endocrinology, medicine.anatomical_structure, chemistry, Liver, embryonic structures, biology.protein, Female, Chorionic Villi, Oxidation-Reduction, Placenta Diseases