Liesbeth Keldermans

TL;DR: It is demonstrated that MAGT1-deficient patients have a defect in glycosylation, and a different phenotype for the disorder is described, confirming the presumed role ofMAGT1 as a subunit of the OST.

TL;DR: The combination of UPD with a de novo mutation is an exceptional coincidence and an extraordinary observation in combination with a segmental maternal uniparental isodisomy for the chromosomal region 3q21.3-3qter.

TL;DR: CDG-I patients present mainly with hypoglycaemia, coagulopathy, hepatomegaly, protein-losing enteropathy, hepatic fibrosis, cyclic vomiting, and diarrhoea, and is the only type with an efficient therapy because dietary mannose can be used via an alternative pathway to generate mannoses-6-phosphate by the action of MPI.

TL;DR: The characterization of two unusual truncating mutations in two CDG-Ia patients are described and their detection stresses the importance to combine PMM2 mutation screening on genomic DNA with analysis of the transcripts and/or with the enzymaticAnalysis of the phosphomannomutase activity.

TL;DR: Five new patients with proven COG5 deficiency are identified and it is concluded that the clinical picture is not always as mild as previously described, and comprises a broad spectrum with phenotypes ranging from mild to very severe.