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

door Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V., Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy
Gepubliceerd in Orphanet J Rare Dis (2018)

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

door Hemelsoet, Dimitri M., Vanlander, Arnaud V., Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy
Gepubliceerd in Neurol Genet (2018)

New insights into the phenotype of FARS2 deficiency

door Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Gepubliceerd in Mol Genet Metab (2017)