1. Long‐term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. Issue 3 (31st October 2013) Authors: van de Ven, Steffi; Gardeitchik, Thatjana; Kouwenberg, Dorus; Kluijtmans, Leo; Wevers, Ron; Morava, Eva Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 3(2014) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. (January 2018) Authors: Pol, Arjan; Renkema, G.; Tangerman, Albert; Winkel, Edwin; Engelke, Udo; de Brouwer, Arjan; Lloyd, Kent; Araiza, Renee; van den Heuvel, Lambert; Omran, Heymut; Olbrich, Heike; Oude Elberink, Marijn; Gilissen, Christian; Rodenburg, Richard; Sass, Jörn; Schwab, K.; Schäfer, Hendrik; Venselaar, Hank... Journal: Nature genetics Issue: Volume 50:Number 1(2018) Page Start: 120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗