المؤلفون: M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

المصدر: Case Reports in Genetics, Vol 2019 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/10af2e8b1c1b4ed188eed8f1a5affa66

المؤلفون: F C C, Klouwer, A, Meester-Delver, F M, Vaz, H R, Waterham, R C M, Hennekam, B T, Poll-The

المصدر: Clinical Genetics. 93(3):613-621

مصطلحات موضوعية: Adult, Male, Adolescent, Disease Management, Reproducibility of Results, macromolecular substances, Severity of Illness Index, Young Adult, Phenotype, nervous system, Child, Preschool, Mutation, Humans, Female, Child, Zellweger Syndrome, Genetic Association Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0e20e42c12caffc20ac69ad296cfcec
https://doi.org/10.1111/cge.13130

المؤلفون: David T. Croke, E. R. Naughten, L. A. Tyfield, B Radomyska, Ciaran O'Neill, Philip Mayne, H R Waterham, S H Brendan Chia, Laura Gort, Paz Briones, H Russell, A Magee, W M Strobl, Orna Tighe, J S Shin, G McMahon, Giorgio Bertorelle, Martin A. Schwartz, Libor Kozák, Juergen K. V. Reichardt, Patricia Fitzpatrick, Jonathan M. Flanagan

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Heredity, 104(2), 148-154. Nature Publishing Group

مصطلحات موضوعية: Galactosemias, Male, Genetics, education.field_of_study, Linkage disequilibrium, UDPglucose-Hexose-1-Phosphate Uridylyltransferase, Haplotype, Population, Mutation, Missense, Single-nucleotide polymorphism, Locus (genetics), Gene mutation, Biology, Polymorphism, Single Nucleotide, White People, Europe, Gene Frequency, Homo sapiens, Humans, Female, education, Allele frequency, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c83320c74b2fc86b5a8201af6f412a9
https://doi.org/10.1038/hdy.2009.84

المؤلفون: R. J. A. Wanders, P. Vreken, S. Ferdinandusse, G. A. Jansen, H. R. Waterham, C. W. T. van Roermund, E. G. Van Grunsven

المصدر: Biochemical Society Transactions. 29:250-267

مصطلحات موضوعية: Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::47d23e4f9fd8471ce58c810d73cffa6a
https://doi.org/10.1042/bst0290250

المؤلفون: Judit Horvath, F Sedel, Viktoria Kapina, Fabienne Picard, H R Waterham, R J A Wanders, André Truffert

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Neurology, Vol. 75, No 14 (2010) pp. 1300-2
Neurology, 75(14), 1300-1302. Lippincott Williams and Wilkins

مصطلحات موضوعية: myalgia, Adult, Male, medicine.medical_specialty, Alpha-Methylacyl-CoA Racemase Deficiency, Visual Acuity/physiology, Racemases and Epimerases, Visual Acuity, Racemases and Epimerases/deficiency, Biology, Asymptomatic, Gastroenterology, Rhabdomyolysis, Peroxisomal Disorders, Edema, Internal medicine, Peroxisomal Disorders/blood/complications, medicine, Humans, Rhabdomyolysis/blood/enzymology/etiology, Hemianopsia, Fatty Acids, Muscle weakness, medicine.disease, Magnetic Resonance Imaging, ddc:616.8, Neuroleptic malignant syndrome, Endocrinology, Schizophrenia, Schizophrenia/complications, Fatty Acids/blood, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef8fa558aca55097388d53617dac8c7
https://doi.org/10.1212/wnl.0b013e3181f612a5

المؤلفون: S M, Houten, R J, Wanders, H R, Waterham

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1529(1-3):19-32

مصطلحات موضوعية: Molecular Sequence Data, Mevalonic Acid, Mevalonic acid, chemistry.chemical_compound, Enzyme activator, Hypergammaglobulinemia, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Enzyme Inhibitors, Molecular Biology, Conserved Sequence, biology, Mevalonate kinase, Immunoglobulin D, Cell Biology, Peroxisome, Subcellular localization, Enzyme assay, Familial Mediterranean Fever, Enzyme Activation, Phosphotransferases (Alcohol Group Acceptor), Liver, chemistry, Biochemistry, Mevalonic aciduria, biology.protein, Mevalonate pathway, Sequence Alignment, Subcellular Fractions

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971bfcaf91d8026395a53ed2ba16559b
https://doi.org/10.1016/s1388-1981(00)00135-9

المؤلفون: E. J. Meijers-Heijboer, J. M. G. van Vugt, P. J. G. Zwijnenburg, H. R. Waterham, M. B. Tan-Sindhunata, K. L. Deurloo

المصدر: Prenatal Diagnosis. 30:162-164

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Pregnancy, Rhizomelic chondrodysplasia punctata, business.industry, Obstetrics, Genetic counseling, Obstetrics and Gynecology, Prenatal diagnosis, medicine.disease, Osteochondrodysplasia, Peroxisomal disorder, medicine, Chondrodysplasia punctata, Neonatology, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::161a053d5655701bc1710f4fd7ff3c2a
https://doi.org/10.1002/pd.2425

المؤلفون: H R, Waterham, J M, Cregg

المصدر: BioEssays. 19:57-66

مصطلحات موضوعية: Membrane Lipids, Yeasts, Biological Transport, Active, Humans, Membrane Proteins, Proteins, Receptors, Cell Surface, Carrier Proteins, Microbodies, Models, Biological, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459ade233bcb63c94fc960447561cc75
https://doi.org/10.1002/bies.950190110

المؤلفون: Pierre Andreoletti, Stéphane Mandard, Aurore Vluggens, Gérard Lizard, Sander Kersten, Janardan K. Reddy, H. I. El Hajj, Kévin Ragot, Ronald J.A. Wanders, H. R. Waterham, Mustapha Cherkaoui-Malki

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Lipides - Nutrition - Cancer (U866) ( LNC ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon ( ENSBANA ), Laboratoire Bio-PeroxIL. Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique ( Bio-PeroxIL ), Université de Bourgogne ( UB ), Departments of Clinical Chemistry and Pediatrics, University of Amsterdam [Amsterdam] ( UvA ) -Academic Medical Centre, Nutrition, Metabolism and Genomics Group, Wageningen University and Research Centre [Wageningen] ( WUR ), Academic Medical Center [Amsterdam] ( AMC ), University of Amsterdam [Amsterdam] ( UvA ) -University of Amsterdam [Amsterdam] ( UvA ) -Universiteit van Amsterdam ( UvA ), Institut National de la Santé et de la Recherche Médicale, the Conseil Régional de Bourgogne, the Ministère de l'Enseignement Supérieur et de la Recherche, and the Centre National de la Recherche Scientifique., Mandard, Stéphane, Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Laboratoire Bio-PeroxIL. Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique (Bio-PeroxIL), Université de Bourgogne (UB), University of Amsterdam [Amsterdam] (UvA)-Academic Medical Centre, Wageningen University and Research [Wageningen] (WUR), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA)-University of Amsterdam [Amsterdam] (UvA)-Universiteit van Amsterdam (UvA)

المصدر: Endocrinology, 153(6), 2568-2575. The Endocrine Society
Endocrinology
Endocrinology, Endocrine Society, 2012, 153 (6), pp.2568-75. 〈10.1210/en.2012-1137〉
Endocrinology, Endocrine Society, 2012, 153 (6), pp.2568-75. ⟨10.1210/en.2012-1137⟩
Endocrinology, 153(6), 2568-2575
Endocrinology 153 (2012) 6

مصطلحات موضوعية: MESH: Inflammation, peroxisomal disorders, MESH: Osteopontin, medicine.medical_treatment, MESH : Immunohistochemistry, MESH : Transcriptome, chemokine receptors, Voeding, Metabolisme en Genomica, 0302 clinical medicine, Endocrinology, MESH: Reverse Transcriptase Polymerase Chain Reaction, Acyl-CoA oxidase, multiple-sclerosis lesions, MESH : Osteopontin, MESH : Fatty Acids, Cells, Cultured, Oligonucleotide Array Sequence Analysis, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 0303 health sciences, Oxidase test, MESH : Gene Expression Regulation, Reverse Transcriptase Polymerase Chain Reaction, Fatty Acids, MESH: Acyl-CoA Oxidase, MESH : Reverse Transcriptase Polymerase Chain Reaction, Peroxisome, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Immunohistochemistry, MESH: Gene Expression Regulation, Metabolism and Genomics, 3. Good health, MESH: Fatty Acids, MESH : Oligonucleotide Array Sequence Analysis, Cytokine, Metabolisme en Genomica, ACOX1, Adrenoleukodystrophy, Nutrition, Metabolism and Genomics, MESH : Acyl-CoA Oxidase, medicine.symptom, Inflammation Mediators, MESH: Cells, Cultured, medicine.medical_specialty, MESH : Interleukin-8, MESH : Interleukin-6, MESH: Inflammation Mediators, Inflammation, Biology, in-vitro, MESH : Interleukin-1, MESH : Inflammation Mediators, 03 medical and health sciences, Voeding, Internal medicine, Peroxisomal disorder, nf-kappa-b, MESH : Cells, Cultured, MESH : Fibroblasts, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, gene, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Nutrition, 030304 developmental biology, VLAG, MESH: Humans, MESH : Inflammation, Interleukin-6, MESH: Transcriptome, Interleukin-8, MESH : Humans, MESH: Interleukin-1, MESH: Immunohistochemistry, Fibroblasts, medicine.disease, MESH: Interleukin-6, MESH: Interleukin-8, Gene Expression Regulation, MESH: Fibroblasts, MESH: Oligonucleotide Array Sequence Analysis, cells, Brief Reports, Osteopontin, microarray analysis, Acyl-CoA Oxidase, Transcriptome, interleukin-1, 030217 neurology & neurosurgery, x-linked adrenoleukodystrophy, Interleukin-1

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b25c8f0010ebbc23f73a7fe631931ebf
https://pure.amc.nl/en/publications/the-inflammatory-response-in-acylcoa-oxidase-1-deficiency-pseudoneonatal-adrenoleukodystrophy(7bd25523-b244-427f-ad1d-aaed82029c73).html

المؤلفون: Georg F. Hoffmann, H. Blobel, S. Köppel, J. Gottschalk, Stefan Kölker, H. R. Waterham

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Neurology, 67(8). Lippincott Williams and Wilkins

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, medicine.medical_specialty, Weakness, Heterozygote, Electron-Transferring Flavoproteins, Late onset, Acyl-CoA Dehydrogenase, Mass Spectrometry, Muscular Diseases, Internal medicine, Carnitine, medicine, Humans, Family history, Diagnostic Errors, Multiple Acyl-CoA Dehydrogenase Deficiency, Myopathy, Oxidoreductases Acting on CH-NH Group Donors, Hypoglycemic encephalopathy, biology, business.industry, Acyl CoA dehydrogenase, Middle Aged, Molecular biology, Endocrinology, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Metabolism, Inborn Errors, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903b0601660662962555a8b99a6afbfd
https://pubmed.ncbi.nlm.nih.gov/17060596