المؤلفون: Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G.P., van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P., Post, Merel A., Huijben, Karin, Panneman, Daan M., Rodenburg, Richard J.T., Voermans, Nicol C., Garanto, Alejandro, Koopman, Werner J.H., Wessels, Hans J.C.T., Noga, Marek J., Lefeber, Dirk J.

المصدر: International Journal of Molecular Sciences 24 (2023) 9 ; ISSN: 1661-6596

مصطلحات موضوعية: PGM1 congenital disorder of glycosylation, PGM1 deficiency, in vitro muscle model, muscle energy homeostasis, muscle metabolic plasticity, phosphoglucomutase 1

وصف الملف: text/html

العلاقة: https://edepot.wur.nl/644898Test; https://research.wur.nl/en/publications/in-vitro-skeletal-muscle-model-of-pgm1-deficiency-reveals-alteredTest

الإتاحة: https://doi.org/10.3390/ijms24098247Test
https://research.wur.nl/en/publications/in-vitro-skeletal-muscle-model-of-pgm1-deficiency-reveals-alteredTest

المؤلفون: Conte, Federica, Noga, Marek J., van Scherpenzeel, Monique, Veizaj, Raisa, Scharn, Rik, Juda-El Sam, Juda-El, Palumbo, Chiara, van den Brandt, Frans C. A., Freund, Christian, Soares, Eduardo, Zhou, Huiqing, Lefeber, Dirk J.

المصدر: Conte , F , Noga , M J , van Scherpenzeel , M , Veizaj , R , Scharn , R , Juda-El Sam , J-E , Palumbo , C , van den Brandt , F C A , Freund , C , Soares , E , Zhou , H & Lefeber , D J 2023 , ' Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells ' , Cells , vol. 12 , no. 13 , 1765 . https://doi.org/10.3390/cells12131765Test

مصطلحات موضوعية: nucleotide sugar metabolism, induced pluripotent stem cells, mass spectrometry-based isotopic tracing, glycosylation, O-GlcNAcylation, PGM1 deficiency, POMPE DISEASE, ENERGY-METABOLISM, FLUX, DIFFERENTIATION, GENERATION, MAINTENANCE, DEFICIENCY, MUTATIONS, MEMORY

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/7427bf48-7251-46ec-bcaa-6ad4caaf6f67Test

الإتاحة: https://doi.org/10.3390/cells12131765Test
https://cris.maastrichtuniversity.nl/en/publications/7427bf48-7251-46ec-bcaa-6ad4caaf6f67Test

المؤلفون: Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothee, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P., van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J., Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Michelakakis, Helen, van Hasselt, Peter M., Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Holmefjord, Katja S. Brocke, Hertecant, Jozef, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude

المساهمون: CNRS, Université de Lille, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

العلاقة: Human Molecular Genetics; http://hdl.handle.net/20.500.12210/18763Test

الإتاحة: https://doi.org/20.500.12210/18763Test
https://hdl.handle.net/20.500.12210/18763Test

المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Noga, Marek, Moret, Ed E., Heise, Torben, Langereis, Jeroen D., Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M. Estela, de Jonge, Marien I., Adema, Gosse J., Zamboni, Nicola, id_orcid:0 000-0003-1271-1021, Boltje, Thomas, Lefeber, Dirk J.

المصدر: Glycobiology, 32 (3)

مصطلحات موضوعية: Fluoro sialic acid, glycosylation, metabolic oligosaccharide engineering, sugar metabolism, synthetic sugar analog

وصف الملف: application/application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000775226200007; http://hdl.handle.net/20.500.11850/525555Test

الإتاحة: https://doi.org/20.500.11850/525555Test
https://doi.org/10.3929/ethz-b-000525555Test
https://doi.org/10.1093/glycob/cwab106Test
https://hdl.handle.net/20.500.11850/525555Test

المؤلفون: Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.

المساهمون: Kementerian Kesihatan Malaysia, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Journal of Inherited Metabolic Disease ; volume 45, issue 4, page 769-781 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12496Test

المؤلفون: Delaine, Tamara, Collins, Patrick, Mackinnon, Alison, Sharma, G., Stegmayr, John, Rajput, Vishal K., Mandal, Santanu, Cumpstey, Ian, Larumbe, Amaia, Salameh, Bader A., Kahl Knutson, Barbro, vanHattum, Hilde, van Scherpenzeel, Monique, Pieters, Roland J., Sethi, Tariq, Schambye, Hans, Oredsson, Stina, Leffler, Hakon, Blanchard, Helen, Nilsson, Ulf

المصدر: ChemBioChem. 17(18):1759-1770

مصطلحات موضوعية: Antagonists, Fibrosis, Galectins, Inhibitors, Thiodigalactosides, Vesicles, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Läkemedelskemi, Medical and Health Sciences, Basic Medicine, Medicinal Chemistry

وصف الملف: electronic

الوصول الحر: https://lup.lub.lu.se/record/5113e975-ed77-4921-b323-f14d35030889Test
https://portal.research.lu.se/files/37165651/11829502.docxTest
http://dx.doi.org/10.1002/cbic.201600285Test

المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Noga, Marek, Moret, Ed E, Heise, Torben, Langereis, Jeroen D, Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M Estela, de Jonge, Marien I, Adema, Gosse J, Zamboni, Nicola, Boltje, Thomas, Lefeber, Dirk J

المساهمون: Horizon 2020, Prinses Beatrix Spierfonds

المصدر: Glycobiology ; volume 32, issue 3, page 239-250 ; ISSN 1460-2423

الإتاحة: https://doi.org/10.1093/glycob/cwab106Test
https://academic.oup.com/glycob/article-pdf/32/3/239/43151775/cwab106.pdfTest

المؤلفون: Moons, Sam J., Rossing, Emiel, Heming, Jurriaan J. A., Janssen, Mathilde A. C. H., van Scherpenzeel, Monique, Lefeber, Dirk J., de Jonge, Marien I., Langereis, Jeroen D., Boltje, Thomas J.

المساهمون: European Research counsil

المصدر: Bioconjugate Chemistry ; volume 32, issue 6, page 1047-1051 ; ISSN 1043-1802 1520-4812

مصطلحات موضوعية: Organic Chemistry, Pharmaceutical Science, Pharmacology, Biomedical Engineering, Bioengineering, Biotechnology

الإتاحة: https://doi.org/10.1021/acs.bioconjchem.1c00194Test

المؤلفون: Conte, Federica, Morava, Eva, Bakar, Nurulamin Abu, Wortmann, Saskia B., Poerink, Anne Jonge, Grunewald, Stephanie, Crushell, Ellen, Al-Gazali, Lihadh, de Vries, Maaike C., Mørkrid, Lars, Hertecant, Jozef, Brocke, Katja Sara, Kronn, David, Feigenbaum, Annette, Fingerhut, Ralph, Wong, Sunnie Yan-Wai, Van Scherpenzeel, Monique, Voermans, Nicol C., Lefeber, Dirk J.

المصدر: 1096-7192.

العلاقة: http://urn.nb.no/URN:NBN:no-85631Test; Conte, Federica Morava, Eva Bakar, Nurulamin Abu Wortmann, Saskia B. Poerink, Anne Jonge Grunewald, Stephanie Crushell, Ellen Al-Gazali, Lihadh de Vries, Maaike C. Mørkrid, Lars Hertecant, Jozef Brocke, Katja Sara Kronn, David Feigenbaum, Annette Fingerhut, Ralph Wong, Sunnie Yan-Wai Van Scherpenzeel, Monique Voermans, Nicol C. Lefeber, Dirk J. . Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Molecular Genetics and Metabolism. 2020, 131(1-2), 135-146; http://hdl.handle.net/10852/82795Test; 1847366; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Molecular Genetics and Metabolism&rft.volume=131&rft.spage=135&rft.date=2020; Molecular Genetics and Metabolism; 131; 1-2; 135; 146; https://doi.org/10.1016/j.ymgme.2020.08.003Test; URN:NBN:no-85631; Fulltext https://www.duo.uio.no/bitstream/handle/10852/82795/1/Postnr%2B1847366_Conte%2Bet%2Bal_Mol%2BGen%2BMetab_1-s2.0-S1096719220301852-main.pdfTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.08.003Test
http://hdl.handle.net/10852/82795Test
http://urn.nb.no/URN:NBN:no-85631Test

المؤلفون: Jansen, Jos C., van Hoek, Bart, Metselaar, Herold J., van den Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, van Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.

المصدر: Jansen , J C , van Hoek , B , Metselaar , H J , van den Berg , A P , Zijlstra , F , Huijben , K , van Scherpenzeel , M , Drenth , J P H & Lefeber , D J 2020 , ' Screening for abnormal glycosylation in a cohort of adult liver disease patients ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1310-1320 . https://doi.org/10.1002/jimd.12273Test

مصطلحات موضوعية: congenital disorders of glycosylation, end-stage liver disease, hyperfucosylation, N-glycosylation, V-ATPase assembly factor defects, CARBOHYDRATE-DEFICIENT TRANSFERRIN, HEPATOCELLULAR-CARCINOMA, CONGENITAL DISORDERS, GOLGI HOMEOSTASIS, MASS-SPECTROMETRY, SERUM HAPTOGLOBIN, CIRRHOSIS, ETHANOL, FUCOSYLATION, DIAGNOSIS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/b67672fc-c3ef-4e46-aeb2-0ccc8ac4d664Test

الإتاحة: https://doi.org/10.1002/jimd.12273Test
https://hdl.handle.net/11370/b67672fc-c3ef-4e46-aeb2-0ccc8ac4d664Test
https://research.rug.nl/en/publications/b67672fc-c3ef-4e46-aeb2-0ccc8ac4d664Test
https://pure.rug.nl/ws/files/134003768/Screening_for_abnormal_glycosylation_in_a_cohort_of_adultliver_disease_patients.pdfTest