@article{UBHD-68469301, author={Janda, Joachim}, title={Closing the gap - inclusion of ultrashort-chain perfluoroalkyl carboxylic acids in the total oxidizable precursor (TOP) assay protocol}, year={2019}, pages={1926-1935}, language={eng}, issn={2050-7895}, volume={21}, number={11}, note={Gesehen am 18.12.2019}, journal={Environmental science}, doi={10.1039/C9EM00169G}, } @article{UBHD-69140453, author={Janda, Joachim and Hegert, Sebastian and Bzdok, Jessica and Tesorero, Rafael and Holtkamp, Ute and Burggraf, Siegfried and Schuhmann, Elfriede and H{\"o}rster, Friederike and Hoffmann, Georg F. and Janzen, Nils and Okun, J{\"u}rgen G. and Becker, Marc and Durner, J{\"u}rgen}, title={High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen}, year={2023}, pages={1-7}, language={eng}, issn={0300-8630}, note={Artikel online ver{\"o}ffentlicht: 25. September 2023 ; Gesehen am 07.11.2023}, journal={Klinische P{\"a}diatrie}, doi={10.1055/a-2153-7789}, } @article{UBHD-69314937, author={Laugwitz, Lucia and Mechtler, Thomas P. and Janzen, Nils and Oliva, Petra and Kasper, Andrea-Romana and Teunissen, Charlotte E. and B{\"u}rger, Friederike and Janda, Joachim and D{\"o}ring, Michaela and Weitz, Marcus and Lang, Peter and Martin, Pascal and Beck-Woedl, Stefanie and Chanson, Charlotte and Essing, Mirko Matthias and Shenker, Andrew and Haack, Tobias and Schulte, Johannes Hubertus and Rosewich, Hendrik and Streubel, Berthold and Kasper, David and Gr{\"o}schel, Samuel}, title={Newborn screening and presymptomatic treatment of metachromatic leukodystrophy}, year={2024}, pages={1256-1258}, language={eng}, issn={1533-4406}, volume={391}, number={13}, note={Gesehen am 05.03.2025}, journal={The New England journal of medicine}, doi={10.1056/NEJMc2407165}, } @article{UBHD-69052451, author={Monostori, Péter and Godejohann, Markus and Janda, Joachim and Galla, Zsolt and Rácz, Gábor and Klinke, Glynis and Szatmári, Ildikó and Zsidegh, Petra and Kohlm{\"u}ller, Dirk and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn and Okun, J{\"u}rgen G.}, title={Identification of potential interferents of methylmalonic acid}, subtitle={a previously unrecognized pitfall in clinical diagnostics and newborn screening}, year={2023}, pages={72-80}, language={eng}, issn={1873-2933}, volume={111(2023) vom: Jan.}, note={Online ver{\"o}ffentlicht am 3. Oktober 2022 ; Gesehen am 16.11.2023}, journal={Clinical biochemistry}, doi={10.1016/j.clinbiochem.2022.09.010}, } @article{UBHD-69094410, author={Tesorero, Rafael and Janda, Joachim and H{\"o}rster, Friederike and Feyh, Patrik and M{\"u}tze, Ulrike and Hauke, Jana and Schwarz, Kathrin and Kunz, Joachim and Hoffmann, Georg F. and Okun, J{\"u}rgen G.}, title={A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry}, year={2023}, pages={1-16}, language={eng}, issn={1932-6203}, volume={18}, note={Gesehen am 07.07.2023}, journal={PLOS ONE}, doi={10.1371/journal.pone.0283024}, }