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

by Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
Published 2018-05-01

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

by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack
Published 2015-04-01