المؤلفون: Peter Vreken, van Gennip Ah, Van Lenthe H, Zoetekouw L, Hans R. Waterham, Janet Haasjes, van Kuilenburg Ab

المصدر: Purine and Pyrimidine Metabolism in Man X ISBN: 9780306465154

مصطلحات موضوعية: business.industry, Cancer, Pharmacology, medicine.disease, Peripheral blood mononuclear cell, Dihydropyrimidine dehydrogenase deficiency, Therapeutic index, Fluorouracil, Toxicity, medicine, Dihydropyrimidine dehydrogenase, business, Pharmacogenetics, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::297d2012f38ba1f4f82cedaff6e9e64d
https://doi.org/10.1007/0-306-46843-3_49

المؤلفون: W. Kroes, Noorduyn A, van den Berg H, de Jong D, van Kuilenburg Ab

المساهمون: Other departments

المصدر: Leukemia, 14(4), 769-770. Nature Publishing Group

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Dihydropyrimidine dehydrogenase deficiency, Oncology, medicine, Cancer research, Anaplastic lymphoma kinase, Hematology, Biology, skin and connective tissue diseases, medicine.disease, Anaplastic large-cell lymphoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba355535ba4c5010bf53fd5792bbcb2d
https://pure.amc.nl/en/publications/leukaemic-expression-of-anaplastic-large-cell-lymphoma-with-46xxins25p23q15q35-in-a-child-with-dihydropyrimidine-dehydrogenase-deficiency(941c6f9d-4210-437f-9ec6-be4a1eb9c58a).html

المؤلفون: R. J. Slingerland, van Gennip Ah, Meinsma, van Kuilenburg Ab, Van den Berg Aa

المصدر: Purine and Pyrimidine Metabolism in Man VIII ISBN: 9781461361053

مصطلحات موضوعية: chemistry.chemical_classification, Oncogene, biology, GTP', Guanine, Molecular biology, enzymes and coenzymes (carbohydrates), chemistry.chemical_compound, Cytosine nucleotide, chemistry, Biosynthesis, IMP dehydrogenase, biology.protein, heterocyclic compounds, Nucleotide, CTP synthetase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f851a2ec85291b01aafabf2e1d45260d
https://doi.org/10.1007/978-1-4615-2584-4_159

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المؤلفون: Beurskens CJ, Aslami H, Kuipers MT, Horn J, Vroom MB, van Kuilenburg AB, Roelofs JJ, Schultz MJ, Juffermans NP

المصدر: Critical Care Medicine; Mar2012, Vol. 40 Issue 3, p919-926, 8p

المؤلفون: van Kuilenburg AB, Häusler P, Schalhorn A, Tanck MW, Proost JH, Terborg C, Behnke D, Schwabe W, Jabschinsky K, Maring JG, van Kuilenburg, André B P, Häusler, Peter, Schalhorn, Andreas, Tanck, Michael W T, Proost, Johannes H, Terborg, Christoph, Behnke, Detlev, Schwabe, Wolfgang, Jabschinsky, Kati, Maring, Jan Gerard

المصدر: Clinical Pharmacokinetics; 2012, Vol. 51 Issue 3, p163-174, 12p

المؤلفون: van Staveren MC, Theeuwes-Oonk B, Guchelaar HJ, van Kuilenburg AB, Maring JG, van Staveren, Maurice C, Theeuwes-Oonk, Barbara, Guchelaar, Henk Jan, van Kuilenburg, André B P, Maring, Jan Gerard

المصدر: Cancer Chemotherapy & Pharmacology; Dec2011, Vol. 68 Issue 6, p1611-1617, 7p

المؤلفون: Lines MA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Ito Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Mears W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Hurteau-Miller J; University of Ottawa, Ottawa, Ontario, Canada.; Department of Diagnostic Imaging, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Venkateswaran S; University of Ottawa, Ottawa, Ontario, Canada.; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Ward L; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Khatchadourian K; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., McClintock J; Division of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Bhola P; University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Campeau PM; Department of Pediatrics, CHU Sainte Justine, Montréal, Québec, Canada.; Department of Pediatrics, University of Montréal, Montréal, Québec, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Michaud J; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., van Kuilenburg AB; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada.; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Canada.

مؤلفون مشاركون: Care4Rare Consortium

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Sep; Vol. 25 (9), pp. 1049-1054. Date of Electronic Publication: 2017 Jun 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cleidocranial Dysplasia/*genetics , Ectodermal Dysplasia/*genetics , Limb Deformities, Congenital/*genetics , Membrane Proteins/*genetics , Micrognathism/*genetics, Alleles ; Cells, Cultured ; Cleidocranial Dysplasia/diagnosis ; Ectodermal Dysplasia/diagnosis ; Female ; Fibroblasts/cytology ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; Humans ; Infant, Newborn ; Inositol/metabolism ; Intracellular Signaling Peptides and Proteins ; Limb Deformities, Congenital/diagnosis ; Membrane Proteins/metabolism ; Micrognathism/diagnosis ; Phenotype ; Phthalimides/pharmacology ; Quinolines/pharmacology ; Vacuoles/metabolism

SCR Disease Name: Yunis Varon syndrome

المؤلفون: Bertholee D; Department of Clinical Pharmacy, Isala, Zwolle, The Netherlands., Maring JG; Department of Clinical Pharmacy, Isala, Zwolle, The Netherlands., van Kuilenburg AB; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl.

المصدر: Clinical pharmacokinetics [Clin Pharmacokinet] 2017 Apr; Vol. 56 (4), pp. 317-337.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Country of Publication: Switzerland NLM ID: 7606849 Publication Model: Print Cited Medium: Internet ISSN: 1179-1926 (Electronic) Linking ISSN: 03125963 NLM ISO Abbreviation: Clin Pharmacokinet Subsets: MEDLINE

مواضيع طبية MeSH: Genotype*, Antineoplastic Agents/*pharmacokinetics , Neoplasms/*genetics , Neoplasms/*metabolism , Polymorphism, Single Nucleotide/*genetics, Animals ; Antineoplastic Agents/therapeutic use ; Cytochrome P-450 Enzyme System/genetics ; Cytochrome P-450 Enzyme System/metabolism ; Genetic Variation/drug effects ; Genetic Variation/physiology ; Glucuronosyltransferase/genetics ; Glucuronosyltransferase/metabolism ; Humans ; Neoplasms/drug therapy ; Pharmacogenetics/methods ; Pharmacogenetics/trends ; Polymorphism, Single Nucleotide/drug effects

المؤلفون: Weijer R; Department of Experimental Surgery, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., Clavier S; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Padualaan 8, 3584, Utrecht, CH, The Netherlands., Zaal EA; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Padualaan 8, 3584, Utrecht, CH, The Netherlands., Pijls MM; Department of Experimental Surgery, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., van Kooten RT; Department of Experimental Surgery, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., Vermaas K; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Padualaan 8, 3584, Utrecht, CH, The Netherlands., Leen R; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., Jongejan A; Bioinformatics Laboratory, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., Moerland PD; Bioinformatics Laboratory, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., van Kampen AH; Bioinformatics Laboratory, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., van Kuilenburg AB; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands., Berkers CR; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Padualaan 8, 3584, Utrecht, CH, The Netherlands., Lemeer S; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Padualaan 8, 3584, Utrecht, CH, The Netherlands., Heger M; Department of Experimental Surgery, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands. m.heger@amc.uva.nl.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2017 Mar; Vol. 74 (6), pp. 1133-1151. Date of Electronic Publication: 2016 Nov 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Metabolic Networks and Pathways*/drug effects , Photochemotherapy* , Signal Transduction*/drug effects, Metabolomics/*methods , Proteomics/*methods, Animals ; Cell Death/drug effects ; Cell Line ; Cell Survival/drug effects ; Down-Regulation/drug effects ; Energy Metabolism/drug effects ; ErbB Receptors/metabolism ; Humans ; Metabolome/drug effects ; Mice ; Oxidation-Reduction/drug effects ; Photosensitizing Agents/pharmacology ; Time Factors ; Transcription, Genetic/drug effects ; Up-Regulation/drug effects