Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

por Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V., Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy
Publicado 2018

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

por Hemelsoet, Dimitri M., Vanlander, Arnaud V., Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy
Publicado 2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

por Bogaert, Delfien J., Kuehn, Hye Sun, Bonroy, Carolien, Calvo, Katherine R., Dehoorne, Joke, Vanlander, Arnaud V., De Bruyne, Marieke, Cytlak, Urszula, Bigley, Venetia, De Baets, Frans, De Baere, Elfride, Rosenzweig, Sergio D., Haerynck, Filomeen, Dullaers, Melissa
Publicado 2018

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

por Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul J., Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud V., Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce
Publicado 2022

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

por Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.
Publicado 2015

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

por Rosier, Karen, McDevitt, Molly T., Smet, Joél, Floyd, Brendan J., Verschoore, Maxime, Marcaida, Maria J., Bingman, Craig A., Lemmens, Irma, Dal Peraro, Matteo, Tavernier, Jan, Cravatt, Benjamin F., Gounko, Natalia V., Vints, Katlijn, Monnens, Yenthe, Bhalla, Kritika, Aerts, Laetitia, Rashan, Edrees H., Vanlander, Arnaud V., Van Coster, Rudy, Régal, Luc, Pagliarini, David J., Creemers, John W.M.
Publicado 2021

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

por Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Publicado 2016