Onderzoeker
Daisy Rymen
- Disciplines:Metabole ziekten
Affiliaties
- Vrouw en Kind (Afdeling)
Lid
Vanaf1 okt 2021 → Heden - Laboratorium voor Moleculaire Diagnostiek (Afdeling)
Lid
Vanaf1 okt 2011 → 30 sep 2015
Publicaties
1 - 10 van 32
- Pseudohyperglycemia due to glucometer interference in galactosemia(2024)
Auteurs: Bram Decru, Gunnar Naulaers, Christine Vanhole, Daisy Rymen, Peter Witters, Pieter Gillard, Pieter Vermeersch
- Glycosphingolipids in congenital disorders of glycosylation (CDG).(2024)
Auteurs: Andrea Jáñez Pedrayes, Daisy Rymen, Bart Ghesquière, Peter Witters
Pagina's: 108434 - "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics(2024)
Auteurs: Pieter Vermeersch, Daisy Rymen
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.(2024)
Auteurs: Selket Delafontaine, Daisy Rymen, Katrien Jansen, Djalila Mekahli, Rik Schrijvers, Xavier Bossuyt, Bram Boeckx, Lisa Ehlers, Sebastian Munck, Diether Lambrechts, et al.
Pagina's: e163604 - Beyond genetics: Deciphering the impact of missense variants in CAD deficiency(2023)
Auteurs: Matthew Wilson, Daisy Rymen
Pagina's: 1170 - 1185 - Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction(2022)
Auteurs: 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)
Auteurs: Matthew Wilson, Erika Souche, Daisy Rymen, Gert Matthijs
Pagina's: 2571 - 2581 - Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings(2021)
Auteurs: Matthew Wilson, Erika Souche, Daisy Rymen, Peter Witters, Gert Matthijs
Pagina's: 2130 - 2144 - Genotype-Phenotype Correlations in PMM2-CDG(2021)
Auteurs: Daisy Rymen, David Cassiman, Peter Witters
- Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy(2021)
Auteurs: Mieke Boon, Peter Witters, Daisy Rymen, Marijke Proesmans
Pagina's: 453 - 461