@book{UBHD-67997600,
  author={Baumgartner, Matthias R. and H{\"o}rster, Friederike},
  title={Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (36 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz. - Aus: Orphanet Journal of Rare Diseases, 9 (2014), Nr. 130. pp. 1-36. ISSN 1750-1172},
  doi={10.1186/s13023-014-0130-8},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-205019},
  library={UB},
}
@article{UBHD-67873533,
  author={Baumgartner, Matthias R. and H{\"o}rster, Friederike},
  title={Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia},
  year={2014},
  language={eng},
  issn={1750-1172},
  volume={9(2014) Artikel-Nr. 130},
  number={36 S.},
  note={Gesehen am 16.09.2015},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-014-0130-8},
}
@article{UBHD-69351844,
  author={Blankenstein, Oliver and H{\"a}rtel, Christoph and Hoefele, Julia and Hoffmann, Georg F. and H{\"o}rster, Friederike and Lawrenz, Burkhard and Lotz-Havla, Amelie and Maier, Esther and Sommerburg, Olaf and Speckmann, Carsten and Urschitz, Michael S.},
  title={Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter},
  subtitle={Stellungnahme der Screeningkommission der Deutschen Gesellschaft f{\"u}r Kinder- und Jugendmedizin},
  year={2024},
  pages={1001-1003},
  language={ger},
  issn={1433-0474},
  volume={172},
  number={11},
  note={Gesehen am 03.06.2025},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-024-02061-0},
}
@article{UBHD-69032572,
  author={Dello Strologo, Luca and Spada, Marco and Vici, Carlo Dionisi and Atti, Marta Ciofi Degli and Rheault, Michelle and Bjerre, Anna Kristina and Boyer, Olivia and Calvo, Pier Luigi and D'Antiga, Lorenzo and Harshman, Lyndsay A. and H{\"o}rster, Friederike and K{\"o}lker, Stefan and Jahnukainen, Timo and Knops, Noël and Krug, Pauline and Krupka, Kai and Lee, Angela and Levtchenko, Elena and Marks, Stephen D. and Stojanovic, Jelena and Martelli, Laura and Mazariegos, George and Montini, Giovanni and Shenoy, Mohan and Sidhu, Sangeet and Spada, Marco and Tangeras, Trine and Testa, Sara and Vijay, Suresh and Wac, Katarzyna and Wennberg, Lars and Concepcion, Waldo and Garbade, Sven and T{\"o}nshoff, Burkhard},
  title={Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia},
  subtitle={a multicenter analysis},
  year={2022},
  pages={265-272},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={3 vom: Nov.},
  note={Gesehen am 01.02.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.09.010},
}
@article{UBHD-68976660,
  author={G{\"o}tz, Maren and Schr{\"o}ter, Julian and Dattner, Tal and Brennenstuhl, Heiko and Lenz, Dominic and Opladen, Thomas and H{\"o}rster, Friederike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Staufner, Christian},
  title={Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency},
  year={2022},
  pages={18-25},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={1},
  note={Online verf{\"u}gbar 11 July 2022, Version des Artikels 19 July 2022 ; Gesehen am 20.10.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.07.007},
}
@article{UBHD-68943503,
  author={Grulich-Henn, J{\"u}rgen and Lichtenstein, Silke and H{\"o}rster, Friederike and Hoffmann, Georg F. and Nawroth, Peter Paul and Hamann, Andreas},
  title={Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents},
  year={2011},
  pages={1-6},
  language={eng},
  issn={1687-8345},
  volume={2011},
  number={Artikel-ID 541021},
  note={Gesehen am 18.07.2022},
  journal={International journal of endocrinology},
  doi={10.1155/2011/541021},
}
@article{UBHD-68819355,
  author={H{\"o}rster, Friederike and Tuncel, Ali Tunç and Gleich, Florian and Plessl, Tanja and Froese, Sean D. and Garbade, Sven and K{\"o}lker, Stefan and Baumgartner, Matthias R.},
  title={Delineating the clinical spectrum of isolated methylmalonic acidurias},
  subtitle={cblA and mut},
  year={2021},
  pages={193-214},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={1},
  note={First published: 05 August 2020 ; Gesehen am 13.12.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12297},
  url={https://doi.org/10.1002/jimd.12297},
  library={UB},
}
@book{UBHD-67301657,
  author={H{\"o}rster, Friederike},
  title={Langzeitverlauf und Therapie der isolierten Methylmalonazidurien},
  year={2012},
  pages={Getr. Z{\"a}hlung},
  language={ger},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze in engl. Sprache},
  school={Heidelberg, Univ., Habil.-Schr., 2012},
  library={UB [Signatur: 2012 U 946]},
}
@book{UBHD-67815491,
  author={H{\"o}rster, Friederike},
  title={NMDA-Rezeptoren und apoptotische Neurodegeneration w{\"a}hrend der fr{\"u}hen Entwicklung der Ratte},
  year={2001},
  pages={64 Bl},
  language={ger},
  school={Berlin, Humboldt-Univ., Diss., 2001},
}
@article{UBHD-68360902,
  author={H{\"o}rster, Friederike and Reuner, Gitta and Rating, Dietz},
  title={Zwanghaftes Verhalten, Fatigue, Par{\"a}sthesien und Hyperosmie als Leitsymptome einer juvenilen multiplen Sklerose},
  year={2004},
  pages={468-470},
  language={ger},
  issn={0721-6106},
  volume={2003},
  journal={Aktuelle Neurop{\"a}diatrie},
}
@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-68676248,
  author={K{\"o}lker, Stefan and Koehr, Georg and Ahlemeyer, Barbara and Okun, J{\"u}rgen G. and Pawlak, Verena and H{\"o}rster, Friederike and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F.},
  title={Ca 2+ and Na + dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons},
  year={2002},
  pages={199-206},
  language={eng},
  issn={1530-0447},
  volume={52},
  number={2},
  note={Im Titel sind "2+" und "+" hochgestellt ; Gesehen am 28.12.2020},
  journal={Pediatric research},
  doi={10.1203/00006450-200208000-00011},
}
@article{UBHD-68901337,
  author={K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Ahlemeyer, Barbara and Wyse, Angela T.S. and H{\"o}rster, Friederike and Wajner, Moacir and Kohlm{\"u}ller, Dirk and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F.},
  title={Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons},
  year={2002},
  pages={424-431},
  language={eng},
  issn={1097-4547},
  volume={68},
  number={4},
  note={Gesehen am 30.03.2022},
  journal={Journal of neuroscience research},
  doi={10.1002/jnr.10189},
}
@article{UBHD-68032823,
  author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela},
  title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 2 : the evolving clinical phenotype},
  year={2015},
  pages={1157-1158},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9868-y},
}
@article{UBHD-68676238,
  author={K{\"o}lker, Stefan and Pawlak, Verena and Ahlemeyer, Barbara and Okun, J{\"u}rgen G. and H{\"o}rster, Friederike and Mayatepek, Ertan and Krieglstein, Josef and Hoffmann, Georg F. and K{\"o}hr, Georg},
  title={NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria},
  year={2002},
  pages={21-28},
  language={eng},
  issn={1460-9568},
  volume={16},
  number={1},
  note={Gesehen am 28.12.2020},
  journal={European journal of neuroscience},
  doi={10.1046/j.1460-9568.2002.02055.x},
}
@article{UBHD-68032800,
  author={K{\"o}lker, Stefan and Boy, Nikolas and Burgard, Peter and Gleich, Florian and H{\"o}rster, Friederike and Haege, Gisela},
  title={The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 2 : the evolving clinical phenotype},
  year={2015},
  pages={1059-1074},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9840-x},
}
@article{UBHD-69008221,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study},
  year={2022},
  pages={349-358},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={4},
  note={Online verf{\"u}gbar 2 November 2022, Artikelversion 14 November 2022 ; Gesehen am 19.01.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.10.007},
}
@article{UBHD-69046272,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Evaluation of right ventricular function in patients with propionic acidemia},
  subtitle={a cross-sectional study},
  year={2023},
  pages={1-13},
  language={eng},
  issn={2227-9067},
  volume={10},
  note={Gesehen am 14.11.2023},
  journal={Children},
  doi={10.3390/children10010113},
}
@article{UBHD-68285379,
  author={Maas, Roeltje R and H{\"o}rster, Friederike and Staufner, Christian},
  title={Progressive deafness-dystonia due to SERAC1 mutations},
  subtitle={a study of 67 cases},
  year={2017},
  pages={1004-1015},
  language={eng},
  issn={1531-8249},
  volume={82},
  number={6},
  note={Gesehen am 13.07.2018},
  journal={Annals of neurology},
  doi={10.1002/ana.25110},
}
@article{UBHD-69067513,
  author={Meyburg, Jochen and H{\"o}rster, Friederike and Schmidt, Jan and P{\"o}schl, Johannes and Hoffmann, Georg F. and Schenk, Jens-Peter},
  title={Monitoring of intraportal liver cell application in children},
  year={2010},
  pages={629-638},
  language={eng},
  issn={1555-3892},
  volume={19},
  number={5},
  note={Gesehen am 20.04.2023},
  journal={Cell transplantation},
  doi={10.3727/096368909X485058},
}
@article{UBHD-69242166,
  author={Molema, Femke and Martinelli, Diego and H{\"o}rster, Friederike and K{\"o}lker, Stefan and Tangeraas, Trine and Koning, Barbara de and Dionisi-Vici, Carlo and Williams, Monique},
  title={Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism},
  subtitle={an overview on European data},
  year={2021},
  pages={593-605},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={3 vom: Mai},
  note={"First published: 30 September 2020".- Frontdoor des Artikels ; Gesehen am 12.08.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12318},
}
@article{UBHD-68249955,
  author={Morath, Marina and H{\"o}rster, Friederike and Sauer, Sven},
  title={Renal dysfunction in methylmalonic acidurias},
  subtitle={review for the pediatric nephrologist},
  year={2013},
  pages={227-235},
  language={eng},
  issn={1432-198X},
  volume={28},
  number={2},
  note={First Online: 20 July 2012 ; Gesehen am 07.05.2018},
  journal={Pediatric nephrology},
  doi={10.1007/s00467-012-2245-2},
}
@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-68901284,
  author={Okun, J{\"u}rgen G. and H{\"o}rster, Friederike and Farkas, Lilla and Feyh, Patrik and Hinz, Angela and Sauer, Sven and Hoffmann, Georg F. and Unsicker, Klaus and Mayatepek, Ertan and K{\"o}lker, Stefan},
  title={Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity},
  year={2002},
  pages={14674-14680},
  language={eng},
  issn={1083-351X},
  volume={277},
  number={17},
  note={Gesehen am 30.03.2022},
  journal={The journal of biological chemistry},
  doi={10.1074/jbc.M200997200},
}
@article{UBHD-68973923,
  author={Opladen, Thomas and Hoffmann, Georg F. and H{\"o}rster, Friederike and Hinz, Anne-B{\"a}rbel and Neidhardt, Katharina and Klein, Christine and Wolf, Nicole},
  title={Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia},
  year={2011},
  pages={157-161},
  language={eng},
  issn={1531-8257},
  volume={26},
  number={1 vom: Jan.},
  note={First published online: 03 September 2010 ; Gesehen am 13.10.2022},
  journal={Movement disorders},
  doi={10.1002/mds.23329},
}
@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-68111665,
  author={Sauer, Sven and Okun, J{\"u}rgen G. and Fricker, Gert and Mahringer, Anne and M{\"u}ller, Ines and Hoffmann, Georg F. and H{\"o}rster, Friederike and K{\"o}lker, Stefan},
  title={Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency},
  year={2006},
  pages={899-910},
  language={eng},
  issn={1471-4159},
  volume={97},
  number={3},
  note={Gesehen am 20.04.2017},
  journal={Journal of neurochemistry},
  doi={10.1111/j.1471-4159.2006.03813.x},
}
@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-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-68463887,
  author={Molema, Femke and Burgard, Peter and K{\"o}lker, Stefan and H{\"o}rster, Friederike and Posset, Roland},
  organization={The European registry and network for Intoxication type Metabolic Diseases},
  title={Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation},
  subtitle={options for treatment},
  year={2019},
  pages={397-405},
  language={eng},
  issn={1096-7206},
  volume={126},
  number={4},
  note={Gesehen am 04.12.2019},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.02.003},
}
@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-68144256,
  author={Wortmann, Saskia Brigitte and H{\"o}rster, Friederike},
  title={Eyes on MEGDEL},
  subtitle={distinctive basal ganglia involvement in dystonia deafness syndrome},
  year={2015},
  pages={098-103},
  language={eng},
  issn={1439-1899},
  volume={46},
  number={02},
  note={Gesehen am 28.07.2017},
  journal={Neuropediatrics},
  doi={10.1055/s-0034-1399755},
}
@article{UBHD-68299998,
  author={Zwickler, Tamaris and Haege, Gisela and Riderer, Alina and H{\"o}rster, Friederike and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan},
  title={Metabolic decompensation in methylmalonic aciduria},
  subtitle={which biochemical parameters are discriminative?},
  year={2012},
  pages={797-806},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={5},
  note={Gesehen am 29.08.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-011-9426-1},
}