Publicaciones Peer reviewed articles (5) The evolving genetic landscape of congenital disorders of glycosylation Autores: Matthew P. Wilson, Gert Matthijs Publicado en: Biochimica et Biophysica Acta (BBA) - General Subjects, Issue 1865/11, 2021, Page(s) 129976, ISSN 0304-4165 Editor: Elsevier BV DOI: 10.1016/j.bbagen.2021.129976 CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Autores: Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Liesbeth Keldermans, Erika Souche, Daisy Rymen, Mehmet Gündüz, Gülşen Köse, Luisa Sturiale, Domenico Garozzo, Hudson H Freeze, Jaak Jaeken, François Foulquier, Gert Matthijs Publicado en: Human Molecular Genetics, 2022, ISSN 0964-6906 Editor: Oxford University Press DOI: 10.1093/hmg/ddac055 SLC37A4‐CDG : Second patient Autores: Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken Publicado en: JIMD Reports, 2021, ISSN 2192-8312 Editor: Wiley DOI: 10.1002/jmd2.12195 Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation Autores: Eline Blommaert, Natalia A. Cherepanova, Frederik Staels, Matthew P. Wilson, Reid Gilmore, Rik Schrijvers, Jaak Jaeken, François Foulquier & Gert Matthijs Publicado en: Human Genetics, 2022, ISSN 1432-1203 Editor: Springer DOI: 10.1007/s00439-021-02400-1 Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Autores: Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witt Publicado en: The American Journal of Human Genetics, Issue 108/11, 2021, Page(s) 2130-2144, ISSN 0002-9297 Editor: University of Chicago Press DOI: 10.1016/j.ajhg.2021.09.012 Buscando datos de OpenAIRE... Se ha producido un error en la búsqueda de datos de OpenAIRE No hay resultados disponibles
