Placental Transfer of Maternally-Derived IgA Precludes the Use of Guthrie Card Eluates as a Screening Tool for Primary Immunodeficiency Diseases

by Borte, Stephan, Janzi, Magdalena, Pan-Hammarström, Qiang, von Döbeln, Ulrika, Nordvall, Lennart, Winiarski, Jacek, Fasth, Anders, Hammarström, Lennart
Published 2012

Thymidine Kinase 2 Deficiency-Induced mtDNA Depletion in Mouse Liver Leads to Defect β-Oxidation

by Zhou, Xiaoshan, Kannisto, Kristina, Curbo, Sophie, von Döbeln, Ulrika, Hultenby, Kjell, Isetun, Sindra, Gåfvels, Mats, Karlsson, Anna
Published 2013

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

by Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Published 2015

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

by Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Published 2014