@article{UBHD-68216478, author={Colin, Estelle and Assmann, Birgit and Christ, Stine and Hoffmann, Georg F.}, title={Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy}, year={2016}, pages={695-703}, language={eng}, issn={1537-6605}, volume={99}, number={3}, note={Gesehen am 02.02.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2016.06.030}, } @article{UBHD-68647966, author={Klinke, Glynis and Richter, Sylvia and Monostori, Péter and Schmidt‐Mader, Brigitte and García‐Cazorla, Angels and Artuch, Rafael and Christ, Stine and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Okun, J{\"u}rgen G.}, title={Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform}, year={2020}, pages={712-725}, language={eng}, issn={1573-2665}, volume={43}, number={4}, note={Gesehen am 13.10.2020}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12213}, url={https://doi.org/10.1002/jimd.12213}, library={UB}, } @article{UBHD-69227553, author={Reischl-Hajiabadi, Anna Theresa and Schnabel-Besson, Elena and Gleich, Florian and Mengler, Katharina and Lindner, Martin and Burgard, Peter and Posset, Roland and Lommer-Steinhoff, Svenja and Gr{\"u}nert, Sarah and Thimm, Eva and Freisinger, Peter and Hennermann, Julia B. and Kr{\"a}mer, Johannes and Gramer, Gwendolyn and Lenz, Dominic and Christ, Stine and H{\"o}rster, Friederike and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan and M{\"u}tze, Ulrike}, title={Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias}, year={2024}, pages={674-689}, language={eng}, issn={1573-2665}, volume={47}, number={4 vom: Juli}, note={Erstmals ver{\"o}ffentlicht: 02 April 2024 ; Gesehen am 01.07.2024}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12731}, } @article{UBHD-69007727, author={Rossmann, Julia and Christ, Stine and Richter, Sylvia and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and Okun, J{\"u}rgen G.}, title={Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid}, year={2022}, pages={1-9}, language={eng}, issn={1873-376X}, volume={1212}, number={Artikel-ID 123503}, note={Gesehen am 18.01.2023}, journal={Journal of chromatography}, doi={10.1016/j.jchromb.2022.123503}, }