المؤلفون: Langerhorst, Pieter, Baerenfaenger, Melissa, Kulkarni, Purva, Nadal, Simon, Wijnands, Charissa, Post, Merel A., Noori, Somayya, Vanduijn, Martijn M., Joosten, Irma, Dejoie, Thomas, Van Gool, Alain J., Gloerich, Jolein, Lefeber, Dirk J., Wessels, Hans J.C.T., Jacobs, Joannes F.M.

المصدر: Langerhorst , P , Baerenfaenger , M , Kulkarni , P , Nadal , S , Wijnands , C , Post , M A , Noori , S , Vanduijn , M M , Joosten , I , Dejoie , T , Van Gool , A J , Gloerich , J , Lefeber , D J , Wessels , H J C T & Jacobs , J F M 2024 , ' N-linked glycosylation of the M-protein variable region : Glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma ' , Clinical Chemistry and Laboratory Medicine , ....

مصطلحات موضوعية: glycoproteogenomics, M-protein, multiple myeloma, N-glycosylation, variable region

الاتاحة: https://research.vu.nl/en/publications/2c8241b0-2bea-453f-b6a2-9becf719d7ed
https://doi.org/10.1515/cclm-2023-1189
https://hdl.handle.net/1871.1/2c8241b0-2bea-453f-b6a2-9becf719d7ed
http://www.scopus.com/inward/record.url?scp=85184831124&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85184831124&partnerID=8YFLogxK

المؤلفون: Baerenfaenger, Melissa, Post, Merel A., Zijlstra, Fokje, van Gool, Alain J., Lefeber, Dirk J., Wessels, Hans J.C.T.

المصدر: Baerenfaenger , M , Post , M A , Zijlstra , F , van Gool , A J , Lefeber , D J & Wessels , H J C T 2024 , ' Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow ' , Analytical chemistry , vol. 96 , no. 22 , pp. 8956-8964 . https://doi.org/10.1021/acs.analchem.3c05874

الاتاحة: https://research.vu.nl/en/publications/d20be5af-5460-4480-808d-36391e657943
https://doi.org/10.1021/acs.analchem.3c05874
https://hdl.handle.net/1871.1/d20be5af-5460-4480-808d-36391e657943
http://www.scopus.com/inward/record.url?scp=85193820852&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85193820852&partnerID=8YFLogxK

المؤلفون: Baerenfaenger, Melissa, Post, Merel A., Langerhorst, Pieter, Huijben, Karin, Zijlstra, Fokje, Jacobs, Joannes F.M., Verbeek, Marcel M., Wessels, Hans J.C.T., Lefeber, Dirk J.

المصدر: Baerenfaenger , M , Post , M A , Langerhorst , P , Huijben , K , Zijlstra , F , Jacobs , J F M , Verbeek , M M , Wessels , H J C T & Lefeber , D J 2023 , ' Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes ' , International Journal of Molecular Sciences , vol. 24 , no. 3 , 1937 , pp. 1-17 . https://doi.org/10.3390/ijms24031937

مصطلحات موضوعية: biomarkers, brain-type glycosylation, cerebrospinal fluid, glycoproteomics, neurodegenerative disease

الاتاحة: https://research.vu.nl/en/publications/41a22c1d-5df8-4f4b-b200-d270f0a241bf
https://doi.org/10.3390/ijms24031937
https://hdl.handle.net/1871.1/41a22c1d-5df8-4f4b-b200-d270f0a241bf
http://www.scopus.com/inward/record.url?scp=85147893066&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85147893066&partnerID=8YFLogxK

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

الاتاحة: https://research.wur.nl/en/publications/in-vitro-skeletal-muscle-model-of-pgm1-deficiency-reveals-altered
https://doi.org/10.3390/ijms24098247

المؤلفون: Post, Merel, de Wit, Isis, Zijlstra, Fokje, Engelke, Udo, van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito-Lee, Joy, Lee, Beom Hee, Low, Karen J, Mallick, Andrew A, Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari-Anne, Wortmann, Saskia, Wessels, Hans, Bärenfänger, Melissa, van Karnebeek, Clara, Lefeber, Dirk

المصدر: Post , M , de Wit , I , Zijlstra , F , Engelke , U , van Rooij , A , Christodoulou , J , Tan , T Y , Le Fevre , A , Jin , D , Yaplito-Lee , J , Lee , B H , Low , K J , Mallick , A A , Õunap , K , Pitt , J , Reardon , W , Vals , M-A , Wortmann , S , Wessels , H , Bärenfänger , M , van Karnebeek , C & Lefeber , D 2023 , ' MOGS-CDG ....

وصف الملف: application/pdf

Relation: https://research-information.bris.ac.uk/en/publications/0b996aa9-485d-4021-b703-a727b178f1ec

الاتاحة: https://hdl.handle.net/1983/0b996aa9-485d-4021-b703-a727b178f1ec
https://research-information.bris.ac.uk/en/publications/0b996aa9-485d-4021-b703-a727b178f1ec
https://doi.org/10.1002/jimd.12588
https://research-information.bris.ac.uk/ws/files/354049459/J_of_Inher_Metab_Disea_2023_Post_MOGS_CDG_Quantitative_analysis_of_the_diagnostic_Glc3Man_tetrasaccharide_and.pdf

المؤلفون: Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro

المساهمون: Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: Leber congenital amaurosis, RPE65 gene, cell-specific defects, iPSC-derived models, induced pluripotent stem cells (iPSCs), inherited retinal diseases, retinal pigment epithelium (RPE), General Biochemistry,Genetics and Molecular Biology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/448445

الاتاحة: https://dspace.library.uu.nl/handle/1874/448445

المؤلفون: Langerhorst, Pieter, Baerenfaenger, Melissa, Kulkarni, Purva, Nadal, Simon, Wijnands, Charissa, Post, Merel A., Noori, Somayya, vanDuijn, Martijn M., Joosten, Irma, Dejoie, Thomas, van Gool, Alain J., Gloerich, Jolein, Lefeber, Dirk J., Wessels, Hans J.C.T., Jacobs, Joannes F.M.

المصدر: Clinical Chemistry & Laboratory Medicine; Jul2024, Vol. 62 Issue 8, p1626-1635, 10p

مصطلحات موضوعية: MULTIPLE myeloma, PLASMA cell diseases, PLASMA cells, DISEASE risk factors, GLYCOSYLATION, CD38 antigen, GLYCANS

المؤلفون: den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M

المساهمون: Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica

مصطلحات موضوعية: N-acetyl-D-neuraminic acid, congenital disorder of glycosylation, glycosylation, intellectual developmental disorder/IDD, metabolic disease, sialic acid biosynthesis, skeletal dysplasia, thrombocytopenia, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443055

الاتاحة: https://dspace.library.uu.nl/handle/1874/443055

المؤلفون: Genetica Klinische Genetica, Child Health, Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro

URL: https://doi.org/10.3390/cells11223640
http://hdl.handle.net/1874/448445
http://www.scopus.com/inward/record.url?scp=85142417924&partnerID=8YFLogxK
2073-4409
Cells
11
22
3640

المؤلفون: Post, Merel A., de Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., Bärenfänger, Melissa

المصدر: Journal of Inherited Metabolic Disease; Mar2023, Vol. 46 Issue 2, p313-325, 13p

المؤلفون: den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F.H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A.J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E.H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L.M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D.M.van

المصدر: den Hollander , B , Rasing , A , Post , M A , Klein , W M , Oud , M M , Brands , M M , de Boer , L , Engelke , U F H , van Essen , P , Fuchs , S A , Haaxma , C A , Jensson , B O , Kluijtmans , L A J , Lengyel , A , Lichtenbelt , K D , Østergaard , E , Peters , G , Salvarinova , R , Simon , M E H , Stefansson , K , Thorarensen , Ó , Ulmen , U , Coene , K L M , Willemsen , M A , Lefeber , D J & Karnebeek , C D M V 2021 , ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ' , Frontiers in Neurology , vol. 12 , 668640 .

مصطلحات الفهرس: congenital disorder of glycosylation, glycosylation, intellectual developmental disorder/IDD, metabolic disease, N-acetyl-D-neuraminic acid, sialic acid biosynthesis, skeletal dysplasia, thrombocytopenia, article

URL: https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html
https://doi.org/10.3389/fneur.2021.668640
https://curis.ku.dk/ws/files/273646298/fneur_12_668640.pdf

المؤلفون: Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica, den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M

URL: https://doi.org/10.3389/fneur.2021.668640
http://hdl.handle.net/1874/443055
https://dspace.library.uu.nl/handle/1874/443055
1664-2295
Frontiers in Neurology
12
668640