3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients

Saskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S Alkuraya, Izelle Smuts, Carolus J Reinecke, Francois H van der Westhuizen, David Thorburn, Jan A M Smeitink, Eva Morava, Ron A Wevers

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Medicin og biovidenskab