Liesbeth Keldermans

Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

Eline Blommaert, Romain Péanne, Daisy Rymen et al. · Proceedings of the National Academy of Sciences · 2019 · 88 citations · Full text

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)

Els Schollen, Stephanie Grünewald, Liesbeth Keldermans et al. · European Journal of Medical Genetics · 2005 · 58 citations

Alg3 Mutation, Cytogenetics, Genetic Disorder +7

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 54 citations · Full text

Genetics, Immunology, Glycobiology +22

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Carmen Barba, Francesca Darra, Raffaella Cusmai et al. · Developmental Medicine & Child Neurology · 2016 · 44 citations · Full text

COG5-CDG: expanding the clinical spectrum

Daisy Rymen, Liesbeth Keldermans, Valérie Race et al. · Orphanet Journal of Rare Diseases · 2012 · 43 citations · Full text