@article{UBHD-69272299,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Comparative analysis of gene and disease selection in genomic newborn screening studies},
  year={2024},
  pages={945-970},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5 vom: Sept.},
  note={Ver{\"o}ffentlicht: 16 May 2024 ; Gesehen am 11.11.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12750},
}
@article{UBHD-69356597,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Response to Downie et al.},
  year={2025},
  pages={1-2},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online ver{\"o}ffentlicht: 14 Januar 2025 ; Gesehen am 16.06.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12837},
}
@article{UBHD-68574658,
  author={Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Feyh, Patrik and Klinke, Glynis and Monostori, Péter and M{\"u}tze, Ulrike and Posset, Roland and Weiss, Karl Heinz and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Newborn screening for vitamin B12 deficiency in Germany},
  subtitle={strategies, results, and public health implications},
  year={2020},
  pages={12 S.},
  language={eng},
  issn={1097-6833},
  volume={216(2020) Artikel-Nummer 165-172.e4},
  number={12 Seiten},
  note={Im Titel ist die Zahl "12" tiefgestellt ; Available online 8 October 2019 ; Gesehen am 07.05.2020},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2019.07.052},
}
@article{UBHD-68916157,
  author={K{\"o}lker, Stefan and Gleich, Florian and M{\"u}tze, Ulrike and Opladen, Thomas},
  title={Rare disease registries are key to evidence-based personalized medicine},
  subtitle={highlighting the european experience},
  year={2022},
  pages={1-11},
  language={eng},
  issn={1664-2392},
  volume={13},
  number={Artikel-ID 832063},
  note={Gesehen am 31.05.2022},
  journal={Frontiers in endocrinology},
  url={https://www.frontiersin.org/article/10.3389/fendo.2022.832063},
  library={UB},
}
@article{UBHD-69132102,
  author={Maier, Esther M. and M{\"u}tze, Ulrike and Janzen, Nils and Steuerwald, Ulrike and Nennstiel-Ratzel, Uta and Odenwald, Birgit and Schuhmann, Elfriede and Lotz-Havla, Amelie S. and Weiss, Katharina J. and Hammersen, Johanna and Weigel, Corina and Thimm, Eva and Gr{\"u}nert, Sarah and Hennermann, Julia B. and Freisinger, Peter and Kr{\"a}mer, Johannes and Das, Anibh M. and Illsinger, Sabine and Gramer, Gwendolyn and Fang-Hoffmann, Junmin and Garbade, Sven and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and R{\"o}schinger, Wulf},
  title={Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples},
  year={2023},
  pages={1-20},
  language={eng},
  issn={1573-2665},
  note={Vor der Ver{\"o}ffentlichung im Heft online ver{\"o}ffentlicht: 21. August 2023 ; Gesehen am 20.10.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12671},
}
@article{UBHD-69351244,
  author={Mengler, Katharina and Garbade, Sven and Gleich, Florian and Thimm, Eva and May, Petra and Lindner, Martin and L{\"u}sebrink, Natalia and Marquardt, Thorsten and H{\"u}bner, Vanessa and Kr{\"a}mer, Johannes and Neugebauer, Julia and Beblo, Skadi and Gillitzer, Claus and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Kamrath, Clemens and Marquardt, Iris and N{\"a}ke, Andrea and Murko, Simona and Schmidt, Sebastian and Schnabel-Besson, Elena and Lommer-Steinhoff, Svenja and Hoffmann, Georg F. and Beime, Jan and Santer, René and K{\"o}lker, Stefan and M{\"u}tze, Ulrike},
  title={Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1098-4275},
  volume={154},
  note={Gesehen am 02.06.2025},
  journal={Pediatrics},
  doi={10.1542/peds.2023-064370},
}
@book{UBHD-68877122,
  author={M{\"u}tze, Ulrike},
  organization={Universit{\"a}t Heidelberg},
  title={Diagnose im Neugeborenenalter - und dann?},
  subtitle={Langzeitentwicklung und -versorgung von Patienten mit angeborenen Stoffwechselerkrankungen nach Identifizierung im Neugeborenenscreening},
  address={Heidelberg},
  year={2021},
  pages={1 Band (verschiedene Seitenz{\"a}hlungen)},
  language={ger and eng},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und 6 Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2021,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2022 U 214]},
}
@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-68983038,
  author={M{\"u}tze, Ulrike and Mengler, Katharina and Boy, Nikolas and Gleich, Florian and Opladen, Thomas and Garbade, Sven and K{\"o}lker, Stefan},
  title={How longitudinal observational studies can guide screening strategy for rare diseases},
  year={2022},
  pages={889-901},
  language={eng},
  issn={1573-2665},
  volume={45},
  number={5},
  note={Gesehen am 08.11.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12508},
  url={https://doi.org/10.1002/jimd.12508},
  library={UB},
}
@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-68297908,
  author={M{\"u}tze, Ulrike and B{\"u}rger, Friederike and Hoffmann, Jessica and Tegetmeyer, Helmut and Heichel, Jens and Nickel, Petra and Lemke, Johannes and Syrbe, Steffen and Beblo, Skadi},
  title={Multigene panel next generation sequencing in a patient with cherry red macular spot},
  subtitle={Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings},
  year={2017},
  pages={1-4},
  language={eng},
  issn={2214-4269},
  volume={10},
  note={Online 1 December 2016 ; Gesehen am 22.08.2018},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2016.11.004},
}
@article{UBHD-69194374,
  author={M{\"u}tze, Ulrike and Ottenberger, Alina and Gleich, Florian and Maier, Esther M. and Lindner, Martin and Husain, Ralf and Palm, Katja and Beblo, Skadi and Freisinger, Peter and Santer, René and Thimm, Eva and Vom Dahl, Stephan and Weinhold, Natalie and Grohmann-Held, Karina and Haase, Claudia and Hennermann, Julia B. and H{\"o}rbe-Blindt, Alexandra and Kamrath, Clemens and Marquardt, Iris and Marquardt, Thorsten and Behne, Robert Stefan Friedrich and Haas, Dorothea and Spiekerk{\"o}tter, Ute and Hoffmann, Georg F. and Garbade, Sven and Gr{\"u}nert, Sarah and K{\"o}lker, Stefan},
  title={Neurological outcome in long-chain hydroxy fatty acid oxidation disorders},
  year={2024},
  pages={883-898},
  language={eng},
  issn={2328-9503},
  volume={11},
  number={4},
  note={Gesehen am 22.03.2024},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.52002},
}
@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-68490389,
  author={M{\"u}tze, Ulrike and Thiele, Alena Gerlinde and B{\"a}rwald, Christoph and Ceglarek, Uta and Kiess, Wieland and Beblo, Skadi},
  title={Ten years of specialized adult care for phenylketonuria},
  subtitle={a single-centre experience},
  publisher={BioMed Central},
  address={London},
  year={2016},
  language={eng},
  issn={1750-1172},
  volume={11(2016) Artikel-Nummer 27},
  number={8 Seiten},
  note={Gesehen am 18.02.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0410-6},
}
@article{UBHD-69346455,
  author={M{\"u}tze, Ulrike and Gleich, Florian and Haas, Dorothea and Urschitz, Michael S. and R{\"o}schinger, Wulf and Janzen, Nils and Hoffmann, Georg F. and Garbade, Sven and Syrbe, Steffen and K{\"o}lker, Stefan},
  title={Vitamin B12 deficiency newborn screening},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1098-4275},
  volume={154},
  note={Online verf{\"u}gbar: 23. Juli 2024 ; Im Titel ist 12 tiefgestellt ; Gesehen am 20.05.2025},
  journal={Pediatrics},
  doi={10.1542/peds.2023-064809},
}
@article{UBHD-68990245,
  author={Reischl-Hajiabadi, Anna Theresa and Garbade, Sven and Feyh, Patrik and Weiss, Karl Heinz and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Hoffmann, Georg F. and Gramer, Gwendolyn},
  title={Maternal vitamin B12 deficiency detected by newborn screening},
  subtitle={evaluation of causes and characteristics},
  year={2022},
  pages={1-17},
  language={eng},
  issn={2072-6643},
  volume={14},
  note={Im Titel erscheint die Ziffer 12 tiefgestellt ; Gesehen am 29.11.2022},
  journal={Nutrients},
  doi={10.3390/nu14183767},
}
@article{UBHD-69267816,
  author={Reischl-Hajiabadi, Anna Theresa and Okun, J{\"u}rgen G. and Kohlm{\"u}ller, Dirk and Manukjan, Georgi and Hegert, Sebastian and Durner, J{\"u}rgen and Schuhmann, Elfriede and H{\"o}rster, Friederike and M{\"u}tze, Ulrike and Feyh, Patrik and Hoffmann, Georg F. and R{\"o}schinger, Wulf and Janzen, Nils and Opladen, Thomas},
  title={Newborn screening for aromatic l-amino acid decarboxylase deficiency},
  subtitle={strategies, results, and implication for prevalence calculations},
  year={2024},
  pages={108148-1-108148-7},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Gesehen am 28.10.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108148},
}
@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-69124833,
  author={Schnabel-Besson, Elena and K{\"o}lker, Stefan and Gleich, Florian and Feyh, Patrik and H{\"o}rster, Friederike and Haas, Dorothea and Fang-Hoffmann, Junmin and Morath, Marina and Gramer, Gwendolyn and R{\"o}schinger, Wulf and Garbade, Sven and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and M{\"u}tze, Ulrike},
  title={Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2072-6643},
  volume={15},
  note={Ver{\"o}ffentlicht: 28. Juli 2023 ; Gesehen am 27.09.2023},
  journal={Nutrients},
  doi={10.3390/nu15153355},
}
@article{UBHD-68745891,
  author={Sonnek, Benedikt and Driedger, Jan Henje and M{\"u}tze, Ulrike and Schubert-Bast, Susanne and Bast, Thomas and Balke, Doreen and Reuner, Gitta and Schuler, Elisabeth and Klabunde-Cherwon, Annick and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)},
  year={2021},
  pages={121-127},
  language={eng},
  issn={1532-2130},
  volume={30},
  note={Online 24 October 2020 ; Gesehen am 08.06.2021},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2020.10.010},
}
@article{UBHD-68264319,
  author={Syrbe, Steffen and M{\"u}tze, Ulrike and Hoffmann, Georg F. and Korenke, Christoph},
  title={Delineating SPTAN1 associated phenotypes},
  subtitle={from isolated epilepsy to encephalopathy with progressive brain atrophy},
  year={2017},
  pages={2322-2336},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={9},
  note={ Published: 24 August 2017 ; Gesehen am 22.06.2018},
  journal={Brain},
  doi={10.1093/brain/awx195},
}
@article{UBHD-68580841,
  author={Syrbe, Steffen and M{\"u}tze, Ulrike},
  title={Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A},
  year={2016},
  pages={182-188},
  language={eng},
  issn={1661-8777},
  volume={7},
  number={4},
  note={Gesehen am 26.05.2020},
  journal={Molecular syndromology},
  doi={10.1159/000447526},
}
@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},
}
@article{UBHD-68398892,
  author={Tuncel, Ali Tunç and Boy, Nikolas and Morath, Marina and H{\"o}rster, Friederike and M{\"u}tze, Ulrike and K{\"o}lker, Stefan},
  title={Organic acidurias in adults},
  subtitle={late complications and management},
  year={2018},
  pages={765-776},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={5},
  note={Gesehen am 14.06.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0135-2},
}
@article{UBHD-69226050,
  author={Zaunseder, Elaine and M{\"u}tze, Ulrike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Heuveline, Vincent and Thiele, Ines},
  title={Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases},
  year={2024},
  pages={24 S.},
  language={eng},
  issn={1932-7420},
  volume={36},
  note={Online verf{\"u}gbar: 3. Juli 2024, Artikelversion:  6. August 2024 ; Gesehen am 25.06.2024},
  journal={Cell metabolism},
  doi={10.1016/j.cmet.2024.05.006},
}