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المؤلفون: Gerrit Smit, Henk D. Bakker, A. B. P. Van Kuilenburg, Rutger Meinsma, A. H. van Gennip, Peter Vreken, R.A. de Abreu
المساهمون: Other departments
المصدر: Journal of Inherited Metabolic Disease, 19, 645-654
Journal of Inherited Metabolic Disease, 19, pp. 645-654
Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands
Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGERمصطلحات موضوعية: Male, Central Nervous System, Purine-Pyrimidine Metabolism, Inborn Errors, BLOOD, LIVER, Lymphoma, Antimetabolites, Nervous System Neoplasms, Child Behavior, Cardiovascular, Polymerase Chain Reaction, 5-FLUOROURACIL TOXICITY, Dihydropyrimidine dehydrogenase deficiency, Exon, Neural Tube Defects, Metabolic Processes (Non MeSH), Hereditary Diseases, Genetics (clinical), Netherlands, Ultrasonography, Genetics, Splice site mutation, Inborn Errors, Mental Disorders, Homozygote, Mitochondrial Myopathies, Peripheral Nervous System Diseases, JUNCTIONS, Skeletal, Exons, Neuromuscular Diseases, THYMINE-URACILURIA, Antineoplastic, Pedigree, Mitochondria, Chemistry, Restriction site, Pharmacology, Clinical, Muscle, Female, Homocystinuria, Kidney Diseases, Pediatric Oncology. Treatment of children with cancer, Oxidoreductases, Polymorphism, Restriction Fragment Length, Antimetabolites, Antineoplastic, Hypothalamo-Hypophyseal System, DNA, Complementary, RNA Splicing, Molecular Sequence Data, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Biology, Child Nutrition Disorders, Biochemical, Clinical, Metabolic Diseases, medicine, Dihydropyrimidine dehydrogenase, Humans, Point Mutation, Clinical Trials, Genetics, Biochemical, Amino Acid Sequence, RNA, Messenger, Vascular Diseases, Kinderoncologie. Behandeling van kinderen met kanker, Erfelijke stofwisselingsziekten, Muscle, Skeletal, Vinca Alkaloids, Dihydrouracil Dehydrogenase (NADP), DNA Primers, MONONUCLEAR-CELLS, Pharmacology, IDENTIFICATION, Base Sequence, Point mutation, DEGRADATION, Fibroblasts, medicine.disease, GENE, Myocardial Contraction, Introns, Exon skipping, Pregnancy Complications, Restriction enzyme, Metabolism, Chemistry, Clinical, Mutation, Energy Metabolism, Metabolism, Inborn Errors
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المؤلفون: Ausems, M.G.E.M., Kroos, M.A., Kraan, M. van der, Smeitink, J.A.M., Kleijer, W.J., Ploos van Amstel, J.K., Reuser, A.J.J.
المصدر: Clinical Genetics, 49, 325-328
Clinical Genetics, 49, pp. 325-328
Clinical Genetics, 49, 6, pp. 325-328مصطلحات موضوعية: Central Nervous System, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Cardiovascular, Biochemical, Clinical, Metabolic Diseases, Genetics, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Erfelijke stofwisselingsziekten, Muscle, Skeletal, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Hereditary Diseases, Mental Disorders, Inborn Errors, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Fibroblasts, Mitochondria, Pregnancy Complications, Chemistry, Metabolism, Chemistry, Clinical, Mutation, Muscle, Homocystinuria, Energy Metabolism, Metabolism, Inborn Errors
وصف الملف: application/pdf
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المؤلفون: Adrian C. Sewell, F. Poggi-Travert, J. S. Schlenzig, Yann Revillon, Daniel Rabier, Pierre Kamoun, Dominique Jan, J. M. Saudubray, J. Laurent, U.A.H. Wendel
المصدر: Journal of Inherited Metabolic Disease, 18, 448-461
Journal of Inherited Metabolic Disease, 18, pp. 448-461مصطلحات موضوعية: Male, Central Nervous System, medicine.medical_treatment, Liver transplantation, Cardiovascular, Gastroenterology, Liver Function Tests, Neural Tube Defects, Metabolic Processes (Non MeSH), Genetics (clinical), Hereditary Diseases, Mental Disorders, Inborn Errors, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Lipids, Thrombosis, Mitochondria, Proteinuria, Chemistry, surgical procedures, operative, Muscle, Female, Homocystinuria, Acidosis, medicine.medical_specialty, Urinary system, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Biochemical, Excretion, Clinical, Metabolic Diseases, Internal medicine, Diabetes mellitus, medicine, Genetics, Humans, Genetics, Biochemical, Vascular Diseases, Erfelijke stofwisselingsziekten, Muscle, Skeletal, business.industry, Vanishing bile duct syndrome, Infant, Newborn, Metabolic acidosis, Fibroblasts, medicine.disease, Liver Transplantation, Surgery, Pregnancy Complications, Metabolism, Chemistry, Clinical, Mutation, Propionates, business, Energy Metabolism, Metabolism, Inborn Errors
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المؤلفون: Wevers, R.A., Engelke, U.F.H., Wendel, U.A.H., Jong, J.G.N. de, Gabreëls, F.J.M., Heerschap, A.
المصدر: Clinical Chemistry, 41, 744-751
Clinical Chemistry, 41, 5, pp. 744-751
Clinical Chemistry, 41, 744-745
Clinical Chemistry, 41, pp. 744-745مصطلحات موضوعية: Central Nervous System, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Cardiovascular, NMR-spectroscopy in body fluids in patients with inherited metabolic diseases, Biochemical, Clinical, Metabolic Diseases, NMR-spectroscopie in lichaamsvloeistoffen bij erfelijke metabole ziekten, Genetics, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Erfelijke stofwisselingsziekten, Muscle, Skeletal, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Hereditary Diseases, Mental Disorders, Inborn Errors, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Fibroblasts, Mitochondria, Pregnancy Complications, Chemistry, Metabolism, Chemistry, Clinical, Mutation, Muscle, Homocystinuria, Energy Metabolism, Metabolism, Inborn Errors
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::268738aa1b2afe3e649e424d53ba79e8
https://hdl.handle.net/2066/21185 -
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المؤلفون: Custers, J.W.H., Smeitink, J.A.M., Helders, P.J.M.
المصدر: Nederlands Tijdschrift voor Fysiotherapie, 105, 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, 164-167
Nederlands Tijdschrift voor Fysiotherapie, 6, pp. 164-167
Nederlands Tijdschrift voor Fysiotherapie, 105, 6, pp. 164-167مصطلحات موضوعية: Central Nervous System, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Cardiovascular, Biochemical, Clinical, Metabolic Diseases, Genetics, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Erfelijke stofwisselingsziekten, Muscle, Skeletal, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Hereditary Diseases, Inborn Errors, Mental Disorders, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Fibroblasts, Mitochondria, Pregnancy Complications, Chemistry, Metabolism, Chemistry, Clinical, Mutation, Muscle, Homocystinuria, Energy Metabolism, Metabolism, Inborn Errors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09d4bee2681f5c58fcea14ef4d8b430a
https://hdl.handle.net/2066/255887 -
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المساهمون: Faculteit der Geneeskunde, Other departments
المصدر: Human Genetics, 100, pp. 263-265
Human Genetics, 100, 2, pp. 263-265
Human Genetics, 100, 263-265
Human Genetics, 100, 263-265. Springer Verlag
Human genetics, 100(2), 263-265. Springer Verlagمصطلحات موضوعية: Male, Central Nervous System, Purine-Pyrimidine Metabolism, Inborn Errors, medicine.disease_cause, Cardiovascular, Polymerase Chain Reaction, Genotype-phenotype distinction, Neural Tube Defects, Metabolic Processes (Non MeSH), Frameshift Mutation, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Hereditary Diseases, Netherlands, Sequence Deletion, Genetics, Mutation, Inborn Errors, Mental Disorders, Homozygote, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Phenotype, Mitochondria, Chemistry, Child, Preschool, Muscle, Female, Homocystinuria, Oxidoreductases, Adult, DNA, Complementary, Sequence analysis, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Biology, Biochemical, Frameshift mutation, Clinical, Metabolic Diseases, Seizures, medicine, Dihydropyrimidine dehydrogenase, Humans, Genetics, Biochemical, Vascular Diseases, Uracil, Muscle, Skeletal, Erfelijke stofwisselingsziekten, Gene, Dihydrouracil Dehydrogenase (NADP), Repetitive Sequences, Nucleic Acid, Models, Genetic, Fibroblasts, Purine/pyrimidine metabolism, Pregnancy Complications, Metabolism, Protein Biosynthesis, Chemistry, Clinical, sense organs, Energy Metabolism, Metabolism, Inborn Errors
وصف الملف: application/pdf
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المؤلفون: Cornelis Jakobs, Daniel L. Bluestone, Ernst Christensen, Allie Moosa, Cesar Santos, Joyce A. Kobori, Daniel Rabier, F Aksu, Dietrich Matern, Klaus Raab, Pierre Beauvais, Brigitte Vollmer, Todd F. Barron, Willy Lehnert, Janice E. Finkelstein, Hans Peter Weber, Gerhard Hammersen, K. Michael Gibson, Brian Fowler, Richard Umansky, Jan A.J.M. Bakkeren, Eva Rossier, Michael Clarke, A. Kimberly Iafolla, Oebele F. Brouwer, Fons J. M. Gabreëls
المصدر: Pediatrics (Evanston), 99, 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574مصطلحات موضوعية: Succinic semialdehyde dehydrogenase deficiency, Male, Central Nervous System, Pediatrics, Developmental Disabilities, Cardiovascular, Neural Tube Defects, Enzyme Inhibitors, Metabolic Processes (Non MeSH), Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), gamma-Aminobutyric Acid, Hereditary Diseases, Inborn Errors, Mental Disorders, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Aldehyde Oxidoreductases, Hypotonia, Mitochondria, Succinate-semialdehyde dehydrogenase, Chemistry, Motor Skills, Child, Preschool, Muscle, Female, Homocystinuria, medicine.symptom, Succinate-Semialdehyde Dehydrogenase, Sodium Oxybate, medicine.drug, Adult, medicine.medical_specialty, Neuromusculaire en neurometabole ziekten, Ataxia, Adolescent, Pregnancy Complications, Cardiovascular, Consanguinity, Inborn errors of metabolism, Biochemical, Vigabatrin, Diagnosis, Differential, Clinical, Metabolic Diseases, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Language Development Disorders, Genetics, Biochemical, Vascular Diseases, Erfelijke stofwisselingsziekten, Muscle, Skeletal, business.industry, Infant, Fibroblasts, medicine.disease, Pregnancy Complications, Metabolism, Endocrinology, Chemistry, Clinical, Pediatrics, Perinatology and Child Health, Mutation, Differential diagnosis, business, Energy Metabolism, Metabolism, Inborn Errors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cf8205fcec461aac75b58b762ec3f7
http://hdl.handle.net/2066/25009 -
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المؤلفون: Bergman, K., Bakkeren, J., Lommen, E.
المصدر: Tijdschrift voor Kindergeneeskunde, 65, 123-124
Tijdschrift voor Kindergeneeskunde, 65, pp. 123-124
Tijdschrift voor Kindergeneeskunde, 65, 3, pp. 123-124مصطلحات موضوعية: Central Nervous System, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Cardiovascular, Biochemical, Clinical, Metabolic Diseases, Genetics, Genetics, Biochemical, Neural Tube Defects, Vascular Diseases, Metabolic Processes (Non MeSH), Muscle, Skeletal, Erfelijke stofwisselingsziekten, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Hereditary Diseases, Mental Disorders, Inborn Errors, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Fibroblasts, Mitochondria, Pregnancy Complications, Chemistry, Metabolism, Chemistry, Clinical, Mutation, Muscle, Homocystinuria, Energy Metabolism, Metabolism, Inborn Errors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ae117aedd22b229074e51f05f6e2f4e
http://hdl.handle.net/2066/264894 -
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المؤلفون: Ron A. Wevers, Jan A.J.M. Bakkeren, Jan J. Rotteveel, A. H. van Gennip, C.W.M.M. Putman, R.A. de Abreu
المصدر: Neuropediatrics, 28, 106-110
Neuropediatrics, 28, pp. 106-110
Neuropediatrics, 28, 2, pp. 106-110مصطلحات موضوعية: Central Nervous System, Purine-Pyrimidine Metabolism, Inborn Errors, Developmental Disabilities, Neurological disorder, Cardiovascular, NMR-spectroscopy in body fluids in patients with inherited metabolic diseases, Mitochondrial myopathy, NMR-spectroscopie in lichaamsvloeistoffen bij erfelijke metabole ziekten, Neural Tube Defects, Metabolic Processes (Non MeSH), GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Hereditary Diseases, medicine.diagnostic_test, Inborn Errors, Mental Disorders, Brain, Mitochondrial Myopathies, General Medicine, Skeletal, Neuromuscular Diseases, Mitochondria, Chemistry, medicine.anatomical_structure, Liver biopsy, Disease Progression, Muscle, Female, Homocystinuria, medicine.medical_specialty, Central nervous system, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Biochemical, Amidohydrolases, Clinical, Metabolic Diseases, Internal medicine, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics, Biochemical, Vascular Diseases, Erfelijke stofwisselingsziekten, Muscle, Skeletal, business.industry, Infant, Newborn, Magnetic resonance imaging, Fibroblasts, medicine.disease, Purine/pyrimidine metabolism, Pregnancy Complications, Endocrinology, Metabolism, Pyrimidines, Dihydropyrimidinase, Chemistry, Clinical, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), Atrophy, business, Energy Metabolism, Metabolism, Inborn Errors, Follow-Up Studies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9129808c3d45b2f1eb01e23908a496
http://hdl.handle.net/2066/25652 -
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المؤلفون: S. Grunewald, Udo Wendel, Jan A.J.M. Bakkeren, R. J. A. Wanders
المساهمون: Faculteit der Geneeskunde, Other departments
المصدر: Journal of Inherited Metabolic Disease, 20, 835-836
Journal of Inherited Metabolic Disease, 20, pp. 835-836
Journal of inherited metabolic disease, 20, 835-836. Springer Netherlands
Journal of inherited metabolic disease, 20(6), 835-836. Springer Netherlandsمصطلحات موضوعية: Male, Central Nervous System, Turkey, Respiratory chain, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Mitochondrion, medicine.disease_cause, Cardiovascular, Fatal Outcome, Mitochondrial myopathy, Neural Tube Defects, Metabolic Processes (Non MeSH), Genetics (clinical), Hereditary Diseases, Netherlands, Mutation, biology, Mitochondrial Trifunctional Protein, Inborn Errors, Mental Disorders, Mitochondrial Myopathies, Skeletal, Neuromuscular Diseases, Enoyl-CoA hydratase, Ketones, Mitochondria, Chemistry, Biochemistry, Muscle, Female, Homocystinuria, Cardiomyopathy, Dilated, Pregnancy Complications, Cardiovascular, Inborn errors of metabolism, Biochemical, Electron Transport, Clinical, Metabolic Diseases, Ammonia, Multienzyme Complexes, medicine, Genetics, Humans, Genetics, Biochemical, Lactic Acid, Vascular Diseases, Muscle, Skeletal, Erfelijke stofwisselingsziekten, Infant, Newborn, Fibroblasts, medicine.disease, Molecular biology, Hypoglycemia, Pregnancy Complications, Metabolism, Chemistry, Clinical, biology.protein, Energy Metabolism, Metabolism, Inborn Errors
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