المؤلفون: Mattijs E Numans, Michiel L Bots, Sytske van Bruggen, Hedwig M M Vos, Rimke C Vos, Guy Rutten, Saskia E van Grondelle, Judith Meijer, Erik van Duin

المصدر: BMJ Open, Vol 12, Iss 7 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/12/7/e062128.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/8da74d6a99f747548827d014875f9726

المؤلفون: Marie-Christine Etienne-Grimaldi, Jean-Christophe Boyer, Christophe Beroud, Litaty Mbatchi, André van Kuilenburg, Christine Bobin-Dubigeon, Fabienne Thomas, Etienne Chatelut, Jean-Louis Merlin, Frédéric Pinguet, Christophe Ferrand, Judith Meijer, Alexandre Evrard, Laurence Llorca, Gilles Romieu, Philippe Follana, Thomas Bachelot, Loic Chaigneau, Xavier Pivot, Véronique Dieras, Rémy Largillier, Mireille Mousseau, Anthony Goncalves, Henri Roché, Jacques Bonneterre, Véronique Servent, Nadine Dohollou, Yann Château, Emmanuel Chamorey, Jean-Pierre Desvignes, David Salgado, Jean-Marc Ferrero, Gérard Milano

المصدر: PLoS ONE, Vol 12, Iss 5, p e0175998 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5421769?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e851b305e66844848f3f60697e611308

المؤلفون: Yoko Nakajima, Judith Meijer, Chunhua Zhang, Xu Wang, Tomomi Kondo, Tetsuya Ito, Doreen Dobritzsch, André B. P. Van Kuilenburg

المصدر: International Journal of Molecular Sciences, Vol 17, Iss 1, p 86 (2016)

مصطلحات موضوعية: dihydropyrimidinase, DPYS, splicing, minigene, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/17/1/86; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/12060d515a97430299e66e24f6ef80aa

المؤلفون: Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesson, Annika Reims, Jorge A. Cayuela, Natalia Kuklina, Jean-François Benoist, Laurence Perrin, Birgit Assmann, Georg F. Hoffmann, Jörgen Bierau, Angela M. Kaindl, André B.P. van Kuilenburg

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: Molecular genetics and metabolism, 136(3), 177-185. Academic Press Inc.
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press Inc.

مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Endocrinology, Diabetes and Metabolism, beta-Ureidopropionase, Minigene approach, Biochemistry, AMINOISOBUTYRIC ACID, Amidohydrolases, MECHANISMS, Neurological abnormalities, Endocrinology, SDG 3 - Good Health and Well-being, GENETIC-ANALYSIS, Genetics, RNA Precursors, Animals, Humans, Abnormalities, Multiple, CRYSTAL-STRUCTURE, WHITE FAT, HOMOCARNOSINE, Molecular Biology, Medicinsk genetik, Functional and structural protein analysis, Mammals, Brain Diseases, Movement Disorders, PURIFICATION, Crystal structure, UPB1, DIHYDROPYRIMIDINE DEHYDROGENASE, ALANINE SYNTHASE, Mutation, beta-Alanine, CARNOSINE, Medical Genetics, ß-Ureidopropionase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4548d2ad17ee7613703e5f517be70cb1
https://doi.org/10.1016/j.ymgme.2022.01.102

المؤلفون: Herman A. van Wietmarschen, Sjef Staps, Judith Meijer, J. Francisca Flinterman, Miek C. Jong

المصدر: MDPI, IJERPH. 19(4):1-18

الإتاحة: https://ideas.repec.org/a/gam/jijerp/v19y2022i4p2478-d754582.html

المؤلفون: Saskia E van Grondelle, Sytske van Bruggen, Judith Meijer, Erik van Duin, Michiel L Bots, Guy Rutten, Hedwig M M Vos, Mattijs E Numans, Rimke C Vos

المصدر: BMJ Open, 12(7). BMJ PUBLISHING GROUP

مصطلحات موضوعية: primary care, hypertension, Humans, Patient Compliance, General Medicine, Pharmacists, qualitative research, Netherlands

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3121baee3e8f7fd6f51766bb9e354dc8
https://hdl.handle.net/1887/3480095

المؤلفون: Sanja Kezic, Maeve A. McAleer, Ivone Jakasa, Susan M.I. Goorden, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Judith Meijer, Jeroen Roelofsen, Monique M. Nieman, André B.P. van Kuilenburg, Alan D. Irvine

المساهمون: Public and occupational health, APH - Societal Participation & Health, APH - Personalized Medicine, AII - Inflammatory diseases, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: British journal of dermatology, 186(6), 988-996. Wiley-Blackwell

مصطلحات موضوعية: ceramides, GBA, stratum corneum, atopic dermatitis, Inflammation, Cytokines, Glucosylceramidase, Humans, Infant, Water, Dermatology, Ceramides, Child, Biomarkers, Dermatitis, Atopic, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce4c26db20388f3627290fe6472ba2
https://pure.amc.nl/en/publications/children-with-atopic-dermatitis-show-increased-activity-of-glucocerebrosidase-and-stratum-corneum-levels-of-glucosylcholesterol-that-are-strongly-related-to-the-local-cytokine-milieu(08fb36be-8893-4458-a5a1-cc09b2f0fd5f).html

المؤلفون: Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Oncogenomics, ARD - Amsterdam Reproduction and Development, APH - Methodology, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Laboratory Medicine, Pediatric surgery

المصدر: New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med

مصطلحات موضوعية: Untranslated region, Male, Ataxia, Genotype, Developmental Disabilities, Glutamine, 030204 cardiovascular system & hematology, Polymerase Chain Reaction, Article, 03 medical and health sciences, 0302 clinical medicine, Glutaminase, Cerebellum, medicine, Humans, 030212 general & internal medicine, Allele, Gene, Amino Acid Metabolism, Inborn Errors, Exome sequencing, Genetics, Whole genome sequencing, Whole Genome Sequencing, business.industry, General Medicine, medicine.disease, Phenotype, Inborn error of metabolism, Child, Preschool, Mutation, Female, medicine.symptom, Atrophy, business, Microsatellite Repeats

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813158a7c5d6c16623b474be3bcc9e38
https://doi.org/10.1056/nejmoa1806627

المؤلفون: Linda M, Henricks, Ester J M, Siemerink, Hilde, Rosing, Judith, Meijer, Susan M I, Goorden, Abeltje M, Polstra, Lida, Zoetekouw, Annemieke, Cats, Jan H M, Schellens, André B P, van Kuilenburg

المصدر: International Journal of Cancer. 142(2):424-430

مصطلحات موضوعية: Antimetabolites, Antineoplastic, Dihydropyrimidine Dehydrogenase Deficiency, Genotype, Humans, Female, Genetic Testing, Middle Aged, Prognosis, Capecitabine, Dihydrouracil Dehydrogenase (NADP)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::895a918995a063b3a25cafab7fc2452f
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85030483429&origin=inward

المؤلفون: Maja Tarailo-Graovac, André B.P. van Kuilenburg, Colin Jd Ross, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Britt I. Drögemöller, Lida Zoetekouw, Dirk Maurer, Jerry Vockley

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases

المصدر: Human mutation, 39(7), 947-953. Wiley-Liss Inc.

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, Dihydropyrimidine Dehydrogenase Deficiency, Genotype, Mutation, Missense, Biology, Compound heterozygosity, Loss of heterozygosity, 03 medical and health sciences, symbols.namesake, Dihydropyrimidine dehydrogenase deficiency, Genetics, medicine, Humans, Missense mutation, Exome, Dihydrouracil Dehydrogenase (NADP), Genetics (clinical), Sequence Deletion, Sanger sequencing, Whole genome sequencing, Whole Genome Sequencing, Chromosome Mapping, Infant, Exons, medicine.disease, Introns, Phenotype, 030104 developmental biology, Child, Preschool, Paraparesis, Spastic, symbols, Female, DPYD

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ea9a34d202ab7305e63edd08dd45dbf
https://doi.org/10.1002/humu.23538