@article{UBHD-69108017, author={Keller, Mareike and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Manti, Filippo and Julia Palacios, Natalia Alexandra and Friedman, Jennifer R. and Yıldız, Yılmaz and Koht, Jeanette Aimee and Wong, Suet-Na and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Pons, Roser and Kulhánek, Jan and Jeltsch, Kathrin and Serrano-Lomelin, Jesus and Garbade, Sven and Opladen, Thomas and Goez, Helly and Burlina, Alberto and Cortès-Saladelafont, Elisenda and Fernández Ramos, Joaquín Alejandro and García-Cazorla, Angeles and Hoffmann, Georg F. and Kiat Hong, Stacey Tay and Honzík, Tomáš and Kavecan, Ivana and Kurian, Manju A. and Leuzzi, Vincenzo and L{\"u}cke, Thomas and Manzoni, Francesca and Mastrangelo, Mario and Mercimek-Andrews, Saadet and Mir, Pablo and Oppebøen, Mari and Pearson, Toni S. and Sivri, H. Serap and Steel, Dora and Stevanović, Galina and Fung, Cheuk-Wing}, title={Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders}, subtitle={Data from the iNTD registry}, year={2021}, pages={1489-1502}, language={eng}, issn={1573-2665}, volume={44}, number={6 vom: Nov.}, note={Online ver{\"o}ffentlicht: 9. Juli 2021 ; Gesehen am 09.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12416}, url={https://doi.org/10.1002/jimd.12416}, 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-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}, }