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 no Orphanet J Rare Dis (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 no Neurol Genet (2018)

New insights into the phenotype of FARS2 deficiency

Por 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
Publicado no Mol Genet Metab (2017)