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Rymen, Daisy
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1

Heterozygous mutations in the C-terminal domain of COPA und..:

Delafontaine, Selket ; Iannuzzo, Alberto ; Bigley, Tarin M....
Journal of Clinical Investigation.  134 (2024)  4 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3585-3601.e22 , 2024
Link: https://doi.org/10.1016/..
 
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3

Glycosphingolipids in congenital disorders of glycosylation..:

Jáñez Pedrayes, Andrea ; Rymen, Daisy ; Ghesquière, Bart.
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108434 , 2024
Link: https://doi.org/10.1016/..
 
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4

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3784 , 2024
Link: https://doi.org/10.1016/..
 
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5

Quality of life in children with erythropoietic protoporphy..:

Kluijver, Louisa G. ; Wensink, Debby ; Wagenmakers, Margreet A. E. M....
The Journal of Dermatology.  , 2024
Link: https://doi.org/10.1111/..
 
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6

Beyond genetics: Deciphering the impact of missense variant..:

del Caño‐Ochoa, Francisco ; Ng, Bobby G. ; Rubio‐del‐Campo, Antonio...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1170-1185 , 2023
Link: https://doi.org/10.1002/..
 
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7

"Hide and seek": Misleading transferrin variants in PMM2‐CD..:

Raynor, Alexandre ; Bruneel, Arnaud ; Vermeersch, Pieter...
PROTEOMICS – Clinical Applications.  18 (2023)  2 - p. , 2023
Link: https://doi.org/10.1002/..
 
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8

CAMLG-CDG: a novel congenital disorder of glycosylation lin..:

Wilson, Matthew P ; Durin, Zoé ; Unal, Özlem...
Human Molecular Genetics.  31 (2022)  15 - p. 2571-2581 , 2022
Link: https://doi.org/10.1093/..
 
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9

Pyruvate and uridine rescue the metabolic profile of OXPHOS..:

Adant, Isabelle ; Bird, Matthew ; Decru, Bram...
Molecular Metabolism.  63 (2022)  - p. 101537 , 2022
Link: https://doi.org/10.1016/..
 
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10

Genotype-Phenotype Correlations in PMM2-CDG:

Vaes, Laurien ; Rymen, Daisy ; Cassiman, David...
Genes.  12 (2021)  11 - p. 1658 , 2021
Link: https://doi.org/10.3390/..
 
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11

Expanding the phenotypic spectrum of FINCA (fibrosis, neuro..:

Rapp, Christina K. ; Van Dijck, Ine ; Laugwitz, Lucia...
Clinical Genetics.  100 (2021)  4 - p. 453-461 , 2021
Link: https://doi.org/10.1111/..
 
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12

SLC37A4‐CDG: Second patient:

Wilson, Matthew P. ; Quelhas, Dulce ; Leão‐Teles, Elisa...
JIMD Reports.  58 (2021)  1 - p. 122-128 , 2021
Link: https://doi.org/10.1002/..
 
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13

International consensus guidelines for phosphoglucomutase 1..:

Altassan, Ruqaiah ; Radenkovic, Silvia ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease.  44 (2020)  1 - p. 148-163 , 2020
Link: https://doi.org/10.1002/..
 
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14

Expanding the clinical and genetic spectrum of CAD deficien..:

Rymen, Daisy ; Lindhout, Martijn ; Spanou, Maria...
Genetics in Medicine.  22 (2020)  10 - p. 1589-1597 , 2020
Link: https://doi.org/10.1038/..
 
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15

Clinical and Molecular Characterization of Classical-Like E..:

Rymen, Daisy ; Ritelli, Marco ; Zoppi, Nicoletta...
Genes.  10 (2019)  11 - p. 843 , 2019
Link: https://doi.org/10.3390/..
 
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