Researcher
Daisy Rymen
- Disciplines:Metabolic diseases
Affiliations
- Woman and Child (Division)
Member
From1 Oct 2021 → Today - Laboratory for Molecular Diagnosis (Division)
Member
From1 Oct 2011 → 30 Sep 2015
Publications
1 - 10 of 32
- Pseudohyperglycemia due to glucometer interference in galactosemia(2024)
Authors: Bram Decru, Gunnar Naulaers, Christine Vanhole, Daisy Rymen, Peter Witters, Pieter Gillard, Pieter Vermeersch
- Glycosphingolipids in congenital disorders of glycosylation (CDG).(2024)
Authors: Andrea Jáñez Pedrayes, Daisy Rymen, Bart Ghesquière, Peter Witters
Pages: 108434 - "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics(2024)
Authors: Pieter Vermeersch, Daisy Rymen
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.(2024)
Authors: Selket Delafontaine, Daisy Rymen, Katrien Jansen, Djalila Mekahli, Rik Schrijvers, Xavier Bossuyt, Bram Boeckx, Lisa Ehlers, Sebastian Munck, Diether Lambrechts, et al.
Pages: e163604 - Beyond genetics: Deciphering the impact of missense variants in CAD deficiency(2023)
Authors: Matthew Wilson, Daisy Rymen
Pages: 1170 - 1185 - Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction(2022)
Authors: Isabelle Adant, Bram Decru, Peter de Witte, Daisy Rymen, Peter Witters, Pieter Vermeersch, David Cassiman, Bart Ghesquière
- CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking(2022)
Authors: Matthew Wilson, Erika Souche, Daisy Rymen, Gert Matthijs
Pages: 2571 - 2581 - Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings(2021)
Authors: Matthew Wilson, Erika Souche, Daisy Rymen, Peter Witters, Gert Matthijs
Pages: 2130 - 2144 - Genotype-Phenotype Correlations in PMM2-CDG(2021)
Authors: Daisy Rymen, David Cassiman, Peter Witters
- Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy(2021)
Authors: Mieke Boon, Peter Witters, Daisy Rymen, Marijke Proesmans
Pages: 453 - 461