Onderzoeker
Joél Smet
- Disciplines:Endocrinologie en metabole ziekten, Pediatrie en neonatologie, Verpleegkunde
Affiliaties
- Vakgroep Inwendige ziekten en Pediatrie (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 nov 1997 → 30 sep 2018
Publicaties
1 - 10 van 45
- Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study(2023)
Auteurs: D. M. Abdou, L. A. Selim, Rudy Van Coster, Joél Smet, G. A. Nakhla, D. A. Mehaney
Pagina's: 31 - 36 - Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function(2021)
Auteurs: Karen Rosier, Molly T. McDevitt, Joél Smet, Brendan J. Floyd, Maxime Verschoore, Maria J. Marcaida, Craig A. Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, et al.
- Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene(2020)
Auteurs: George K. Papadimas, Efthimia Vargiami, Pinelopi Dragoumi, Rudy Van Coster, Joél Smet, Sara Seneca, Constantinos Papadopoulos, Evangelia Kararizou, Dimitrios Zafeiriou
Pagina's: 94 - 97 - Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?(2018)
Auteurs: Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, et al.
- Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT(2018)
Auteurs: Dimitri Hemelsoet, Arnaud Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Björn Menten, Rudy Van Coster
- Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency(2018)
Auteurs: Elise Vantroys, Joél Smet, Arnaud Vanlander, Sarah Vergult, Ruth De Bruyne, Hedwig Stepman, Herbert Roeyers
- Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans(2018)
Auteurs: S. J. Vandecasteele, S. Seneca, Joél Smet, M. Reynders, J. De Ceulaer, Arnaud Vanlander, Rudy Van Coster
Pagina's: 431.e1 - 431.e3 - Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses(2016)
Auteurs: Arnaud Vanlander, Laura Muiño Mosquera, Joseph Panzer, Tine Deconinck, Joél Smet, Sara Seneca, Chantal Ceuterick-de Groote, Peter De Jonghe, Rudy Van Coster, Jonathan Baets
Pagina's: 32 - 38 - RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome(2016)
Auteurs: FILOMEEN HAERYNCK, PATRICK VERLOO, Delfien Bogaert, Joél Smet, Arnaud Vanlander, Victoria Bordon Maria, Helene Verhelst, Rudy Van Coster, Melissa Dullaers
Aantal pagina's: 1 - Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy(2015)
Auteurs: François-Guillaume Debray, Claudia Stümpfig, Arnaud Vanlander, Vinciane Dideberg, Claire Josse, Jean-Hubert Caberg, François Boemer, Vincent Bours, René Stevens, Sara Seneca, et al.
Pagina's: 1147 - 1153