@article{UBHD-68805566, author={M{\"a}rtner, E.M. Charlotte and Thimm, Eva and Guder, Philipp and Schiergens, Katharina A. and Rutsch, Frank and Roloff, Sylvia and Marquardt, Iris and Das, Anibh M. and Freisinger, Peter and Gr{\"u}nert, Sarah and Kr{\"a}mer, Johannes and Baumgartner, Matthias R. and Beblo, Skadi and Haase, Claudia and Dieckmann, Andrea and Lindner, Martin and N{\"a}ke, Andrea and Hoffmann, Georg F. and M{\"u}hlhausen, Chris and Walter, Magdalena and Garbade, Sven and Maier, Esther M. and K{\"o}lker, Stefan and Boy, Nikolas}, title={The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1}, subtitle={a national prospective follow-up study}, year={2021}, pages={1-12}, language={eng}, issn={2045-2322}, volume={11}, number={Artikel-ID 19300}, note={Verlagskorrektur erschienen am 12. Oktober 2021 mit dem DOI 10.1038/s41598-021-00137-5 wegen falscher Affiliationsangabe f{\"u}r Herrn Nikolas Boy ; Gesehen am 26.11.2021}, journal={Scientific reports}, doi={10.1038/s41598-021-98809-9}, url={https://doi.org/10.1038/s41598-021-98809-9}, library={UB}, } @article{UBHD-68784520, author={M{\"u}tze, Ulrike and Walter, Magdalena and Keller, Mareike and Gramer, Gwendolyn and Garbade, Sven and Gleich, Florian and Haas, Dorothea and Posset, Roland and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Thimm, Eva and Fang-Hoffmann, Junmin and Syrbe, Steffen and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated}, year={2021}, pages={42-48}, language={eng}, issn={1097-6833}, volume={235(2021) vom: Aug.}, note={Im Titel ist die Zahl 12 tiefgestellt ; Gesehen am 29.09.2021}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2021.02.009}, } @article{UBHD-68679973, author={M{\"u}tze, Ulrike and Garbade, Sven and Gramer, Gwendolyn and Lindner, Martin and Freisinger, Peter and Gr{\"u}nert, Sarah and Hennermann, Julia and Ensenauer, Regina and Thimm, Eva and Zirnbauer, Judith and Leichsenring, Michael and Gleich, Florian and H{\"o}rster, Friederike and Grohmann-Held, Karina and Boy, Nikolas and Fang-Hoffmann, Junmin and Burgard, Peter and Walter, Magdalena and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Long-term outcomes of individuals with metabolic diseases identified through newborn screening}, year={2020}, pages={11 S.}, language={eng}, issn={1098-4275}, volume={146(2020}, note={Gesehen am 14.01.2020}, journal={Pediatrics}, doi={10.1542/peds.2020-0444}, } @article{UBHD-68880738, author={M{\"u}tze, Ulrike and Henze, Lucy and Gleich, Florian and Lindner, Martin and Gr{\"u}nert, Sarah and Spiekerk{\"o}tter, Ute and Santer, René and Blessing, Holger and Thimm, Eva and Ensenauer, Regina and Weigel, Johannes and Beblo, Skadi and Arélin, Maria and Hennermann, Julia B. and Marquardt, Thorsten and Marquardt, Iris and Freisinger, Peter and Kr{\"a}mer, Johannes and Dieckmann, Andrea and Weinhold, Natalie and Keller, Mareike and Walter, Magdalena and Schiergens, Katharina Anna and Maier, Esther M. and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan}, title={Newborn screening and disease variants predict neurological outcome in isovaleric aciduria}, year={2021}, pages={1-14}, language={eng}, issn={1573-2665}, volume={44}, number={4 vom: 25. Jan.}, note={First published: 25.01.2021}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12364}, url={https://doi.org/10.1002/jimd.12364}, library={UB}, } @article{UBHD-69065521, author={Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Call, Debora and Green, Kim and Schara, Ulrike and Rascher, Wolfgang and H{\"o}vel, Annegret and Assmann, Birgit and K{\"o}lker, Stefan and Westhoff, Jens and Walter, Magdalena and Ziegler, Andreas and Hoffmann, Georg F. and Kiening, Karl}, title={Die intrazerebrale Gentherapie des Aromatischen-L-Aminos{\"a}ure-Decarboxylase-Mangels mit Eladocagene exuparvovec}, year={2021}, pages={738-747}, language={ger}, issn={1433-0474}, volume={169}, number={8}, note={Gesehen am 14.04.2023}, journal={Monatsschrift Kinderheilkunde}, doi={10.1007/s00112-021-01232-7}, url={https://doi.org/10.1007/s00112-021-01232-7}, library={UB}, } @article{UBHD-68696619, author={Posset, Roland and K{\"o}lker, Stefan and Gleich, Florian and Okun, J{\"u}rgen G. and Gropman, Andrea L. and Nagamani, Sandesh C. S. and Scharre, Svenja and Probst, Joris and Walter, Magdalena and Hoffmann, Georg F. and Garbade, Sven and Zielonka, Matthias}, title={Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders}, year={2020}, pages={390-397}, language={eng}, issn={1096-7206}, volume={131}, number={4}, note={Gesehen am 08.02.2021}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2020.10.013}, }