The evolving genetic landscape of congenital disorders of glycosylation
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Autores:
Matthew P. Wilson, Gert Matthijs
Publicado en:
Biochimica et Biophysica Acta (BBA) - General Subjects, Edición 1865/11, 2021, Página(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
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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
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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
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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
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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, Edición 108/11, 2021, Página(s) 2130-2144, ISSN 0002-9297
Editor:
University of Chicago Press
DOI:
10.1016/j.ajhg.2021.09.012
