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1Academic Journal
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
Relation: https://edepot.wur.nl/644898
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2Academic Journal
المؤلفون: Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3Academic Journal
المؤلفون: Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, 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: Afd Chemical Biology and Drug Discovery, Chemical Biology and Drug Discovery
مصطلحات موضوعية: fluoro sialic acid, glycosylation, metabolic oligosaccharide engineering, sugar metabolism, synthetic sugar analog
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck-Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Pinto Oliveira Rizzo, Isabela Maria, Mello, Walquiria Domingues, Heiner-Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, Scherpenzeel, Monique, Janssen, Mirian, Boer, Lonneke, Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
المصدر: Abu Bakar , N , Ashikov , A , Brum , J M , Smeets , R , Kersten , M , Huijben , K , Keng , W T , Speck-Martins , C E , Carvalho , D R , Pinto Oliveira Rizzo , I M , Mello , W D , Heiner-Fokkema , R , Gorman , K , Grunewald , S , Michelakakis , H , Moraitou , M , Martinelli , D , Scherpenzeel , M , Janssen , M , Boer , L , Heuvel , L P , Thiel , C & Lefeber ....
مصطلحات موضوعية: CDG type 1 (CDG-I), congenital disorders of glycosylation (CDG), diagnostics by mass spectrometry, glycomics, multi-omics, smMIPs, TRANSFERRIN, TETRASACCHARIDE
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://doi.org/10.1002/jimd.12496
https://pure.rug.nl/ws/files/219218620/J_of_Inher_Metab_Disea_2022_Abu_Bakar_Synergistic_use_of_glycomics_and_single_molecule_molecular_inversion_probes_for.pdf -
5Academic Journal
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
Relation: info:eu-repo/semantics/altIdentifier/wos/000775226200007; http://hdl.handle.net/20.500.11850/525555
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6Academic Journal
المؤلفون: Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
المصدر: JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)
مصطلحات موضوعية: congenital disorders of glycosylation, dolichol‐phosphate‐mannose, dystroglycanopathy, MPDU1‐CDG, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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7Academic Journal
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
Relation: Human Molecular Genetics; http://hdl.handle.net/20.500.12210/18763
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8Academic Journal
المؤلفون: Wilson, Matthew P., Garanto, Alejandro, Pinto e Vairo, Filippo, Ng, Bobby G., Ranatunga, Wasantha K., Ventouratou, Marina, Baerenfaenger, Melissa, Huijben, Karin, Thiel, Christian, Ashikov, Angel, Keldermans, Liesbeth, Souche, Erika, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Michelakakis, Helen, Fiumara, Agata, Pitt, James, White, Susan M., Lim, Sze Chern, Gallacher, Lyndon, Peters, Heidi, Rymen, Daisy, Witters, Peter, Ribes, Antonia, Morales-Romero, Blai, Rodríguez-Palmero, Agustí, Ballhausen, Diana, de Lonlay, Pascale, Barone, Rita, Janssen, Mirian C.H., Jaeken, Jaak, Freeze, Hudson H., Matthijs, Gert, Morava, Eva, Lefeber, Dirk J.
المصدر: Wilson , M P , Garanto , A , Pinto e Vairo , F , Ng , B G , Ranatunga , W K , Ventouratou , M , Baerenfaenger , M , Huijben , K , Thiel , C , Ashikov , A , Keldermans , L , Souche , E , Vuillaumier-Barrot , S , Dupré , T , Michelakakis , H , Fiumara , A , Pitt , J , White , S M , Lim , S C , Gallacher , L , Peters , H , Rymen , D , Witters , P , ....
مصطلحات موضوعية: congenital disorders of glycosylation, dominant inheritance, glycosylation, oligosaccharyltransferase complex
الاتاحة: https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56
https://doi.org/10.1016/j.ajhg.2021.09.012
https://hdl.handle.net/1871.1/1bed4f1e-f652-4ed4-a577-46c9142faa56
http://www.scopus.com/inward/record.url?scp=85118510371&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85118510371&partnerID=8YFLogxK -
9Academic Journal
المؤلفون: Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Rios-Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
المساهمون: Medicum, Department of Pathology, University of Helsinki, HUS Helsinki and Uusimaa Hospital District
مصطلحات موضوعية: X-LINKED MYOPATHY, ENDOPLASMIC-RETICULUM, GOLGI HOMEOSTASIS, VACUOLAR MEMBRANE, CHOLESTEROL, DEFICIENCY, TRANSPORT, ENZYMES, General medicine, internal medicine and other clinical medicine
وصف الملف: application/pdf
Relation: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Minassian , B , Rugierri , A , Kalimo , H , Rios-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , T H , Simons , M & Lefeber , D J 2020 , ' Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease ' , Hepatology , vol. 72 , no. 6 , pp. 1968-1986 . https://doi.org/10.1002/hep.31218; http://hdl.handle.net/10138/326475; 8579ad66-5d5d-4836-9278-a65069d8e86e; 000601216300007
الاتاحة: http://hdl.handle.net/10138/326475
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10Academic Journal
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
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11Academic Journal
المؤلفون: Cannata Serio, Magda, Graham, Laurie A, Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C, He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Ríos-Ocampo, W Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W, Holleboom, Adriaan G, Morava, Eva, Veltman, Joris A, Socha, Piotr, Stevens, Tom H, Simons, Matias, Lefeber, Dirk J
المصدر: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Ríos-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , ....
مصطلحات موضوعية: X-LINKED MYOPATHY, ENDOPLASMIC-RETICULUM, GOLGI HOMEOSTASIS, VACUOLAR MEMBRANE, CHOLESTEROL, DEFICIENCY, TRANSPORT, ENZYMES
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/79a50e4d-d50d-4b60-b99d-e864a6084457
https://research.rug.nl/en/publications/79a50e4d-d50d-4b60-b99d-e864a6084457
https://doi.org/10.1002/hep.31218
https://pure.rug.nl/ws/files/156840853/Mutations_in_the_V_ATPase_Assembly_Factor_VMA21_Cause_a_Congenital_Disorder_of_Glycosylation_With_Autophagic_Liver_Disease.pdf -
12Electronic Resource
المؤلفون: Conte, F., Ashikov, A.M., Mijdam, R., Ven, E.G.P. van de, Scherpenzeel, M. van, Veizaj, R., Mahalleh-Yousefi, S.P., Post, M.A., Huijben, Karin, Panneman, D.M., Rodenburg, R.J.T., Voermans, N.C., Garanto, A., Koopman, W.J.H., Wessels, H.J.C.T., Noga, M.J., Lefeber, D.J.
المصدر: International Journal of Molecular Sciences; 1422-0067; 9; 24; 8247; ~International Journal of Molecular Sciences~~~~~1422-0067~9~24~~8247
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13Academic Journal
المؤلفون: Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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14Academic Journal
المؤلفون: van Tol, Walinka, van Scherpenzeel, Monique, Alsady, Mohammad, Riemersma, Moniek, Hermans, Esther, Kragt, Else, Tasca, Giorgio, Kamsteeg, Erik-Jan, Pennings, Maartje, van Beusekom, Ellen, Vermeulen, Jeroen R., van Bokhoven, Hans, Voermans, Nicol C., Willemsen, Michel A., Ashikov, Angel, Lefeber, Dirk J.
المصدر: van Tol , W , van Scherpenzeel , M , Alsady , M , Riemersma , M , Hermans , E , Kragt , E , Tasca , G , Kamsteeg , E-J , Pennings , M , van Beusekom , E , Vermeulen , J R , van Bokhoven , H , Voermans , N C , Willemsen , M A , Ashikov , A & Lefeber , D J 2019 , ' Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy ' , Clinical Chemistry , vol. 65 , no. 10 ....
مصطلحات موضوعية: ALPHA-DYSTROGLYCAN, POSTTRANSLATIONAL MODIFICATION, DEFECTIVE GLYCOSYLATION, GLYCOPROTEIN COMPLEX, D-RIBOSE, ISPD, MUTATIONS, FKRP, METABOLISM, THERAPY
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15Report
المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, 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: bioRxiv
مصطلحات موضوعية: Glycosylation, Metabolism, Metabolic oligosaccharide engineering, Sialic acid, Synthetic sugar analog
وصف الملف: application/application/pdf
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16
المؤلفون: Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGERمصطلحات موضوعية: Glycosylation, congenital disorders of glycosylation (CDG), Oligosaccharides, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], multi-omics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], N-Acetylglucosaminyltransferases, TETRASACCHARIDE, Mannosyltransferases, TRANSFERRIN, glycomics, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Congenital Disorders of Glycosylation, Polysaccharides, Genetics, Humans, CDG type 1 (CDG-I), smMIPs, diagnostics by mass spectrometry, Mannose, Genetics (clinical)
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: Niemann, Michael C. E., Bartrina, Isabel, Ashikov, Angel, Weber, Henriette, Novák, Ondřej, Spíchal, Lukáš, Strnad, Miroslav, Strasser, Richard, Bakker, Hans, Schmülling, Thomas, Werner, Tomáš
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2015 Jan 01. 112(1), 291-296.
URL الوصول: https://www.jstor.org/stable/26460393
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18Academic Journal
المؤلفون: Urbano PCM, Aguirre-Gamboa R, Ashikov A, van Heeswijk B, Krippner-Heidenreich A, Tijssen H, Li Y, Azevedo VF, Smits LJT, Hoentjen F, Joosten I, Koenen HJPM
المصدر: Journal of Allergy and Clinical Immunology, 2018
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/245954; https://eprints.ncl.ac.uk/fulltext.aspx?url=245954/FDE3886C-E8D0-47F9-ACBC-5B46BAF17D7A.pdf&pub_id=245954
الاتاحة: https://eprints.ncl.ac.uk/245954
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19Academic Journal
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, Dorothée, 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, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude
المساهمون: Netherlands Organisation for Health Research and Development, Natural Sciences and Engineering Research Council of Canada, Brain Canada Foundation, Health Canada, Ministry of Health of Malaysia, European Union Framework Programme for Research and Innovation, MZ CR AZV
المصدر: Human Molecular Genetics ; volume 27, issue 17, page 3029-3045 ; ISSN 0964-6906 1460-2083
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20Academic Journal
المؤلفون: Barbara Hadley, Andrea Maggioni, Angel Ashikov, Christopher J. Day, Thomas Haselhorst, Joe Tiralongo
المصدر: Computational and Structural Biotechnology Journal, Vol 10, Iss 16, Pp 23-32 (2014)
مصطلحات موضوعية: Nucleotide sugar transporters, CMP-sialic acid transporter, Golgi apparatus, Endoplasmic reticulum, STD NMR spectroscopy, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource