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Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.Human Molecular Genetics|March 9, 2022
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane traffickingMatthew P Wilson, Zoé Durin, Özlem Unal, et al.Proceedings of the National Academy of Sciences of the United States of America|May 1, 2019
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotypeEline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.The Journal of Pediatrics|December 19, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceDulce Quelhas, Esmeralda Martins, Luísa Azevedo, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, et al.Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.Pageof 2