Epoxide hydrolysis as a model system for understanding flux through a branched reaction scheme

by Åsa Janfalk Carlsson, Paul Bauer, Doreen Dobritzsch, Shina C. L. Kamerlin, Mikael Widersten
Published 2018-05-01

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

by Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap
Published 2020-12-01

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene

by Yoko Nakajima, Judith Meijer, Chunhua Zhang, Xu Wang, Tomomi Kondo, Tetsuya Ito, Doreen Dobritzsch, André B. P. Van Kuilenburg
Published 2016-01-01

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

by Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer
Published 2021-03-01