A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

Autor: Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber

Publikováno v: JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)

Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic

Externí odkaz: https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

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

Publikováno v: Mol. Genet. Metab. 131, 135-146 (2020)
Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
Molecular Genetics and Metabolism, 131, 135-146

Contains fulltext : 229474.pdf (Publisher’s version ) (Open Access) Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e25c4dbc4b7770f0ca7fd5c101e4b08
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60435

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

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

Publikováno v: CDG group 2018, ' Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation ', Human Molecular Genetics, vol. 27, no. 17, pp. 3029-3045 . https://doi.org/10.1093/hmg/ddy213
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩

Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in sin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e709730c784b1fbb4d2aab2a8939fd5a
https://research.rug.nl/en/publications/f2f95986-9727-4cad-968f-2627eb4a6a0e

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Autor: Thorsten Marquardt, Monique van Scherpenzeel, John Vissing, Mirian C. H. Janssen, Dirk Lefeber, Francis Bowling, Nurulamin Abu Bakar, Jolanta Sykut-Cegielska, Ellen Crushell, Christian Thiel, Eva Morava, Hana Hansikova, Lars Mørkrid, Nicol C. Voermans

Publikováno v: Abu Bakar, N, Voermans, N C, Marquardt, T, Thiel, C, Janssen, M C H, Hansikova, H, Crushell, E, Sykut-Cegielska, J, Bowling, F, MØrkrid, L, Vissing, J, Morava, E, van Scherpenzeel, M & Lefeber, D J 2018, ' Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency ', Translational Research, vol. 199, pp. 62-76 . https://doi.org/10.1016/j.trsl.2018.04.008
Translational Research, 199, 62-76
Translational Research, 199, pp. 62-76

Contains fulltext : 196117.pdf (Publisher’s version ) (Open Access) Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdf2e5692ce72eb7544c8b482b0ed91
https://hdl.handle.net/2066/196117

Glycomics as an Innovative Approach for Personalized Medicine

Autor: Stephanie Holst, Monique van Scherpenzeel, Nurulamin Abu Bakar, Manfred Wuhrer, Dirk Lefeber

Publikováno v: Handbook of Biomarkers and Precision Medicine ISBN: 9780429202872

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c0c44d760f1187c5a50dd36ff10c27af
https://doi.org/10.1201/9780429202872-46