Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

por Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
Publicado 2019

Genotype-Phenotype Correlations in PMM2-CDG

por Vaes, Laurien, Rymen, Daisy, Cassiman, David, Ligezka, Anna, Vanhoutvin, Nele, Quelhas, Dulce, Morava, Eva, Witters, Peter
Publicado 2021

Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction

por Adant, Isabelle, Bird, Matthew, Decru, Bram, Windmolders, Petra, Wallays, Marie, de Witte, Peter, Rymen, Daisy, Witters, Peter, Vermeersch, Pieter, Cassiman, David, Ghesquière, Bart
Publicado 2022

COG5-CDG: expanding the clinical spectrum

por Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Publicado 2012

Correction: COG5-CDG: expanding the clinical spectrum

por Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Publicado 2013

SLC37A4‐CDG: Second patient

por Wilson, Matthew P., Quelhas, Dulce, Leão‐Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak
Publicado 2021

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

por Wilson, Matthew P, Durin, Zoé, Unal, Özlem, Ng, Bobby G, Marrecau, Thomas, Keldermans, Liesbeth, Souche, Erika, Rymen, Daisy, Gündüz, Mehmet, Köse, Gülşen, Sturiale, Luisa, Garozzo, Domenico, Freeze, Hudson H, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Publicado 2022

MAN1B1 Deficiency: An Unexpected CDG-II

por Rymen, Daisy, Peanne, Romain, Millón, María B., Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G., Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Publicado 2013

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado 2017