Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

by Sabine Jung-Klawitter, Oya Kuseyri Hübschmann
Published 2019-08-01

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

by Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen
Published 2017-04-01

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B

by Sabine Jung-Klawitter, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Thomas Opladen
Published 2019-04-01

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

by Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen
Published 2020-02-01

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

by Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter
Published 2019-05-01

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

by Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter
Published 2019-03-01

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1...

by Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen
Published 2020-11-01