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1دورية أكاديمية
المؤلفون: Gerbert A. Jansen, Rob Ofman, Simone Denis, Sacha Ferdinandusse, Eveline M. Hogenhout, Cornelis Jakobs, Ronald J.A. Wanders
المصدر: Journal of Lipid Research, Vol 40, Iss 12, Pp 2244-2254 (1999)
مصطلحات موضوعية: α-oxidation, peroxisome, phytanoyl-CoA, 2-oxoglutarate dioxygenase, Refsum's disease, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S002222752032099X; https://doaj.org/toc/0022-2275
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المؤلفون: Lisya Gerez, Pedro Brites, Rob Benne, Eveline M. Hogenhout, Janet Haasjes, Hans R. Waterham, Alison M Motley, Henk F. Tabak, Ronald J.A. Wanders
المساهمون: Faculteit der Geneeskunde, Laboratory Genetic Metabolic Diseases, Medical Biochemistry, Paediatric Metabolic Diseases
المصدر: American Journal of Human Genetics, 70, 612-624. Cell Press
American journal of human genetics, 70(3), 612-624. Cell Pressمصطلحات موضوعية: Repetitive Sequences, Amino Acid, musculoskeletal diseases, Protein Folding, DNA Mutational Analysis, Molecular Sequence Data, Receptors, Cytoplasmic and Nuclear, Genes, Recessive, Peroxin, Biology, medicine.disease_cause, Protein Structure, Secondary, Frameshift mutation, Open Reading Frames, Structure-Activity Relationship, Genes, Reporter, Peroxisomal disorder, Genetics, medicine, Animals, Humans, Genetics(clinical), Chondrodysplasia punctata, Amino Acid Sequence, Allele, Codon, Frameshift Mutation, Luciferases, Alleles, Genetics (clinical), Peroxisomal Targeting Signal 2 Receptor, Mutation, Rhizomelic chondrodysplasia punctata, Chondrodysplasia Punctata, Rhizomelic, Genetic heterogeneity, Genetic Complementation Test, Homozygote, Articles, Fibroblasts, medicine.disease, Phenotype, COS Cells, sense organs, Sequence Alignment
وصف الملف: application/pdf
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المؤلفون: R. J. A. Wanders, S. Goldfischer, Lodewijk IJlst, Simone Denis, C. W. T. van Roermund, E. G. van Grunsven, Sacha Ferdinandusse, Hans R. Waterham, Eveline M. Hogenhout, W. Oostheim
المساهمون: Faculteit der Geneeskunde, Laboratory Genetic Metabolic Diseases, Other departments, Paediatric Metabolic Diseases
المصدر: American Journal of Human Genetics, 70, 1589-1593. Cell Press
American journal of human genetics, 70(6), 1589-1593. Cell Pressمصطلحات موضوعية: 17-Hydroxysteroid Dehydrogenases, Blotting, Western, Biology, Kidney, Exon, Peroxisomal Multifunctional Protein-2, Multienzyme Complexes, Report, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Humans, Genetics(clinical), Amino Acid Sequence, Zellweger Syndrome, Enoyl-CoA Hydratase, Genetics (clinical), Hydro-Lyases, Zellweger syndrome, Thiolase, Kidney metabolism, 3-Hydroxyacyl CoA Dehydrogenases, Brain, Exons, Enoyl-CoA hydratase, Peroxisome, Fibroblasts, medicine.disease, Acetyl-CoA C-Acyltransferase, Introns, Biochemistry, sense organs
وصف الملف: application/pdf
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المؤلفون: Ronald J.A. Wanders, Eveline M. Hogenhout, Cornelis Jakobs, Simone Denis, Gerbert A. Jansen, Sacha Ferdinandusse, Rob Ofman
المصدر: Journal of Lipid Research, Vol 40, Iss 12, Pp 2244-2254 (1999)
مصطلحات موضوعية: Phytanic acid, phytanoyl-CoA, 2-oxoglutarate dioxygenase, Cell Biology, QD415-436, Biology, Peroxisome, Subcellular localization, Molecular biology, Biochemistry, chemistry.chemical_compound, Endocrinology, chemistry, Complementary DNA, Protein purification, Alpha oxidation, Refsum's disease, peroxisome, Heterologous expression, α-oxidation, Peptide sequence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e444108789f5753ead119aef1a90ae
http://www.sciencedirect.com/science/article/pii/S002222752032099X -
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المؤلفون: Ronald J.A. Wanders, Eveline M. Hogenhout, Rob Ofman
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1439:89-94
مصطلحات موضوعية: Expressed sequence tag, Open reading frame, Biochemistry, Acyltransferase, Complementary DNA, Nucleic acid sequence, Cell Biology, Heterologous expression, Biology, Molecular Biology, Molecular biology, Peptide sequence, Peroxisomal targeting signal
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المؤلفون: H. S. A. Heijmans, Frank Baas, Ewald H. Hettema, Ben Distel, A. L. M. A. ten Asbroek, Eveline M. Hogenhout, R. J. A. Wanders, Pedro Brites, Henk F. Tabak, Alison M Motley, Frits A. Wijburg
المساهمون: Other departments
المصدر: Nature genetics, 15(4), 377-380. Nature Publishing Group
مصطلحات موضوعية: DNA, Complementary, Recombinant Fusion Proteins, Molecular Sequence Data, Gene Expression, Receptors, Cytoplasmic and Nuclear, Biology, medicine.disease_cause, Mice, Peroxisomal disorder, Protein targeting, Genetics, medicine, Animals, Humans, Chondrodysplasia punctata, Amino Acid Sequence, Cloning, Molecular, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Peroxisomal Targeting Signal 2 Receptor, Rhizomelic chondrodysplasia punctata, Base Sequence, Chondrodysplasia Punctata, Rhizomelic, Sequence Homology, Amino Acid, Peroxisome, Fibroblasts, medicine.disease, Mutation, PEX1, PEX6
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0db924ea3f5c22f7b974038d7c1fc07
https://doi.org/10.1038/ng0497-377 -
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المؤلفون: Lodewijk IJlst, Eveline M. Hogenhout, Janet Koster, Ronald J.A. Wanders, Simone Denis, Carlo W.T. van Roermund, Ann B. Moser, Hans R. Waterham, Sacha Ferdinandusse
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Human mutation, 28(9), 904-912. Wiley-Liss Inc.
مصطلحات موضوعية: Gene isoform, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Lipid Metabolism, Inborn Errors, law.invention, Cohort Studies, Peroxisomal Disorders, Exon, law, Genetics, medicine, Acyl-CoA oxidase, Humans, Amino Acid Sequence, Beta oxidation, Genetics (clinical), Cells, Cultured, Mutation, Oxidase test, Sequence Homology, Amino Acid, Fatty Acids, Peroxisome, Fibroblasts, Molecular biology, Isoenzymes, Phenotype, Biochemistry, Recombinant DNA, lipids (amino acids, peptides, and proteins), Acyl-CoA Oxidase, Oxidoreductases, Biomarkers
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المؤلفون: Frits A. Wijburg, H. S. A. Heijmans, Ben Distel, R. J. A. Wanders, Alison M Motley, Ewald H. Hettema, Pedro Brites, Eveline M. Hogenhout, Henk F. Tabak
المساهمون: Faculteit der Geneeskunde, Other departments
المصدر: Journal of inherited metabolic disease, 21, 306-308. Springer Netherlands
Journal of inherited metabolic disease, 21(3), 306-308. Springer Netherlandsمصطلحات موضوعية: medicine.medical_specialty, Rhizomelic chondrodysplasia punctata, Chondrodysplasia Punctata, Rhizomelic, Receptors, Cytoplasmic and Nuclear, Biology, Peroxisomal Targeting Signal 2 Receptor, medicine.disease, Osteochondrodysplasia, Endocrinology, Gene Frequency, Leucine, Internal medicine, Mutation, Mutation (genetic algorithm), Peroxisomal disorder, Genetics, medicine, Humans, Chondrodysplasia punctata, Allele frequency, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: N. M. Verhoeven, Sacha Ferdinandusse, Ronald J.A. Wanders, C.A.J.M. Jakobs, Gerrit Jansen, Eveline M. Hogenhout
المصدر: Current Views of Fatty Acid Oxidation and Ketogenesis ISBN: 9780306462009
مصطلحات موضوعية: PHYTANOYL-CoA HYDROXYLASE, medicine.medical_specialty, Zellweger syndrome, chemistry.chemical_compound, Endocrinology, Refsum disease, Phytanic acid, Chemistry, Internal medicine, medicine, medicine.disease, Infantile Refsum disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::121945b39d960aa525de08ab82124511
https://doi.org/10.1007/0-306-46818-2_43 -
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المؤلفون: Rob Ofman, O. H. Skjeldal, Ronald J.A. Wanders, Cornelis Jakobs, Eveline M. Hogenhout, Sacha Ferdinandusse, Hans R. Waterham, Gerbert A. Jansen
المساهمون: Other departments
المصدر: Human molecular genetics, 9(8), 1195-1200. Oxford University Press
مصطلحات موضوعية: Phytanic acid, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Mixed Function Oxygenases, chemistry.chemical_compound, Exon, Genetics, medicine, Missense mutation, Humans, Point Mutation, Molecular Biology, Gene, Genetics (clinical), Sequence Deletion, Mutation, Base Sequence, Point mutation, General Medicine, Exons, medicine.disease, Introns, Refsum disease, chemistry, Amino Acid Substitution, Refsum Disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db027a67d64d981b2de5754a1dc4bd6b
https://pubmed.ncbi.nlm.nih.gov/10767344