@article{UBHD-69108008,
  author={Alfonsi, Chiara and Stephan-Otto, Christian and Cortès-Saladelafont, Elisenda and Palacios, Natalia Juliá and Podzamczer-Valls, Inés and Cruz, Nuria Gutiérrez and Jiménez, María Rosario Domingo and Micó, Salvador Ibáñez and Vila, Miguel Tomás and Jeltsch, Kathrin and Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas and Fragua, Ramón Velázquez and Gómez, Teresa and Fortuny, Oscar Alcoverro and Jiménez, Inmaculada García and Laso, Eduardo López and Martínez, Ana Roche and López, Jordi Muchart and Garcia-Cazorla, Àngels},
  title={Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders},
  year={2022},
  pages={2179-2190},
  language={eng},
  issn={1432-1920},
  volume={64},
  number={11},
  note={Gesehen am 09.08.2023},
  journal={Neuroradiology},
  doi={10.1007/s00234-022-02989-8},
}
@article{UBHD-69146519,
  author={Badnjarević, Ivana and Moyer, Kelly and Bertoldi, Mariarita and Opladen, Thomas and Flint, Lisa},
  title={Navigating the rare neurotransmitter disease diagnosis},
  subtitle={Insights from patients and health care professionals},
  year={2023},
  pages={4 S.},
  language={eng},
  issn={1573-2665},
  number={online ahead of print},
  note={Gesehen am 27.11.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12675},
}
@article{UBHD-68306442,
  author={Barić, Ivo and Staufner, Christian and Opladen, Thomas},
  title={Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders},
  year={2017},
  pages={5-20},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={1},
  note={Published online: 26 September 2016 ; Gesehen am 20.09.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9972-7},
}
@article{UBHD-68303414,
  author={Batllori, Marta and Opladen, Thomas},
  title={Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients},
  year={2017},
  pages={9 S.},
  language={eng},
  issn={2045-2322},
  volume={7(2017) Articel number 14675},
  number={9 Seiten},
  note={Gesehen am 10.09.2018},
  journal={Scientific reports},
  doi={10.1038/s41598-017-15063-8},
}
@article{UBHD-68787916,
  author={Becker, Hera and Garbade, Sven and Forster, Johannes and Bosse, Hans-Martin and Huwendiek, S{\"o}ren and Opladen, Thomas and Fehr, Folkert},
  title={Core content of pediatric specialty training Prioritization using the Delphi method},
  year={2021},
  pages={244-252},
  language={eng},
  issn={1433-0474},
  volume={168},
  number={3},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-019-0706-4},
}
@article{UBHD-68257733,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Assmann, Birgit and Burgard, Peter and Harting, Inga and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and Opladen, Thomas and Posset, Roland and Sahm, Katja and K{\"o}lker, Stefan},
  title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I},
  subtitle={second revision},
  year={2017},
  pages={75-101},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={1},
  note={Published online: 16 November 2016 ; Gesehen am 05.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9999-9},
}
@article{UBHD-68583843,
  author={Brennenstuhl, Heiko and Kohlm{\"u}ller, Dirk and Gramer, Gwendolyn and Garbade, Sven and Syrbe, Steffen and Feyh, Patrik and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Opladen, Thomas},
  title={High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots},
  year={2020},
  pages={602-610},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={3},
  note={First published: 18 December 2019 ; Gesehen am 04.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12208},
  url={https://doi.org/10.1002/jimd.12208},
  library={UB},
}
@article{UBHD-68431129,
  author={Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Assmann, Birgit and Opladen, Thomas},
  title={Inherited disorders of neurotransmitters},
  subtitle={classification and practical approaches for diagnosis and treatment},
  year={2019},
  pages={2-14},
  language={eng},
  issn={1439-1899},
  volume={50},
  number={1},
  note={29. Oktober 2018 ; Gesehen am 18.09.2019},
  journal={Neuropediatrics},
  doi={10.1055/s-0038-1673630},
}
@article{UBHD-69113609,
  author={Brennenstuhl, Heiko and Nashawi, Mohammed and Schr{\"o}ter, Julian and Baronio, Federico and Beedgen, Lars and Gleich, Florian and Jeltsch, Kathrin and Landenberg, Christina von and Martini, Silvia and Simon, Anna and Thiel, Christian and Tsiakas, Konstantinos and Opladen, Thomas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haas, Dorothea},
  title={Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria},
  year={2021},
  pages={1272-1287},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={5},
  note={Gesehen am 17.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12412},
  url={https://doi.org/10.1002/jimd.12412},
  library={UB},
}
@article{UBHD-68685106,
  author={Brennenstuhl, Heiko and Garbade, Sven and Okun, J{\"u}rgen G. and Feyh, Patrik and Hoffmann, Georg F. and Langhans, Claus-Dieter and Opladen, Thomas},
  title={Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency},
  year={2020},
  pages={163-170},
  language={eng},
  issn={1096-7206},
  volume={131},
  number={1/2},
  note={Gesehen am 28.01.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.07.001},
}
@article{UBHD-68687473,
  author={Brennenstuhl, Heiko and Didiášová, Miroslava and Assmann, Birgit and Bertoldi, Mariarita and Molla, Gianluca and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Schr{\"o}ter, Julian and Opladen, Thomas and Tikkanen, Ritva},
  title={Succinic semialdehyde dehydrogenase deficiency},
  subtitle={in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1},
  year={2020},
  pages={1-15},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21},
  note={Gesehen am 02.02.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21228578},
}
@article{UBHD-68440296,
  author={Breuer, Maximilian and Guglielmi, Luca and Zielonka, Matthias and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Carl, Matthias and Sauer, Sven and Opladen, Thomas},
  title={QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis},
  year={2019},
  pages={19 S.},
  language={eng},
  issn={1932-6203},
  volume={14(2019},
  note={Gesehen am 14.10.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0215162},
}
@incollection{UBHD-68304770,
  author={Br{\"u}ggemann, Norbert and Opladen, Thomas},
  title={Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency},
  year={2012},
  pages={1071-1075},
  language={eng},
  note={Gesehen am 13.09.2018},
  journal={Archives of neurology},
  doi={10.1001/archneurol.2012.104},
}
@article{UBHD-68762577,
  author={Burlina, Alberto and Giuliani, Antonella and Polo, Giulia and Gueraldi, Daniela and Gragnaniello, Vincenza and Cazzorla, Chiara and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Burlina, Alessandro P.},
  title={Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency},
  subtitle={the northeastern Italian experience},
  year={2021},
  pages={56-62},
  language={eng},
  issn={1096-7206},
  volume={133},
  number={1},
  note={Gesehen am 22.07.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.03.009},
}
@article{UBHD-69211369,
  author={Deininger, Luca and Jung-Klawitter, Sabine and Mikut, Ralf and Richter, Petra and Fischer, Manuel and Karimian-Jazi, Kianush and Breckwoldt, Michael O. and Bendszus, Martin and Heiland, Sabine and Kleesiek, Jens Philipp and Opladen, Thomas and Kuseyri H{\"u}bschmann, Oya and H{\"u}bschmann, Daniel and Schwarz, Daniel},
  title={An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids},
  year={2023},
  pages={1-9},
  language={eng},
  issn={2045-2322},
  volume={13},
  number={Artikel-ID 21231},
  note={Gesehen am 06.05.2024},
  journal={Scientific reports},
  doi={10.1038/s41598-023-48343-7},
}
@article{UBHD-68570478,
  author={Didiášová, Miroslava and Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Opladen, Thomas},
  title={Succinic semialdehyde dehydrogenase deficiency},
  subtitle={an update},
  year={2020},
  pages={26 S.},
  language={eng},
  issn={2073-4409},
  volume={9(2020},
  note={Gesehen am 27.04.2020},
  journal={Cells},
  doi={10.3390/cells9020477},
}
@article{UBHD-68333405,
  author={El-Hattab, Ayman W. and Opladen, Thomas and Hoffmann, Georg F.},
  title={Molecular and clinical spectra of FBXL4 deficiency},
  year={2017},
  pages={1649-1659},
  language={eng},
  issn={1098-1004},
  volume={38},
  number={12},
  note={Gesehen am 28.11.2018},
  journal={Human mutation},
  doi={10.1002/humu.23341},
}
@article{UBHD-68319619,
  author={Evers, Christina and Seitz, Angelika and Assmann, Birgit and Opladen, Thomas and Karch, Stephanie and Hinderhofer, Katrin and Granzow, Martin and Paramasivam, Nagarajan and Eils, Roland and Bartram, Claus R. and Moog, Ute},
  title={Diagnosis of CoPAN by whole exome sequencing},
  subtitle={waking up a sleeping tiger's eye},
  year={2017},
  pages={1878-1886},
  language={eng},
  issn={1552-4833},
  volume={173},
  number={7},
  note={Gesehen am 22.10.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.38252},
}
@article{UBHD-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian and Fischer, Christine and Thiel, Christian and Opladen, Thomas and Kotzaeridou, Urania and Eils, Roland and K{\"o}lker, Stefan and Bartram, Claus R. and Hoffmann, Georg F. and Moog, Ute},
  title={Impact of clinical exomes in neurodevelopmental and neurometabolic disorders},
  year={2017},
  pages={297-307},
  language={eng},
  issn={1096-7206},
  volume={121},
  number={4},
  note={Gesehen am 22.10.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.06.014},
}
@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-69129795,
  author={Himmelreich, Nastassja and Bertoldi, Mariarita and Alfadhel, Majid and Alghamdi, Malak Ali and Anikster, Yair and Bao, Xinhua and Bashiri, Fahad A. and Zeev, Bruria Ben and Bisello, Giovanni and Ceylan, Ahmet Cevdet and Chien, Yin-Hsiu and Choy, Yew Sing and Elsea, Sarah H. and Flint, Lisa and García-Cazorla, Àngels and Gijavanekar, Charul and G{\"u}m{\"u}ş, Emel Yılmaz and Hamad, Muddathir H. and Hişmi, Burcu and Honzik, Tomas and Kuseyri H{\"u}bschmann, Oya and Hwu, Wuh-Liang and Ibáñez-Micó, Salvador and Jeltsch, Kathrin and Juliá-Palacios, Natalia and Kasapkara, Çiğdem Seher and Kurian, Manju A. and Kusmierska, Katarzyna and Liu, Ning and Ngu, Lock Hock and Odom, John D. and Ong, Winnie Peitee and Opladen, Thomas and Oppeboen, Mari and Pearl, Phillip L. and Pérez, Belén and Pons, Roser and Rygiel, Agnieszka Magdalena and Shien, Tan Ee and Spaull, Robert and Sykut-Cegielska, Jolanta and Tabarki, Brahim and Tangeraas, Trine and Th{\"o}ny, Beat and Wassenberg, Tessa and Wen, Yongxin and Yakob, Yusnita and Yin, Jasmine Goh Chew and Zeman, Jiri and Blau, Nenad},
  title={Corrigendum to},
  subtitle={Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes},
  year={2023},
  pages={1-5},
  language={eng},
  issn={1096-7206},
  volume={139},
  note={Gesehen am 16.10.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.107647},
}
@article{UBHD-69107918,
  author={Himmelreich, Nastassja and Bertoldi, Mariarita and Alfadhel, Majid and Alghamdi, Malak Ali and Anikster, Yair and Bao, Xinhua and Bashiri, Fahad A. and Zeev, Bruria Ben and Bisello, Giovanni and Ceylan, Ahmet Cevdet and Chien, Yin-Hsiu and Choy, Yew Sing and Elsea, Sarah H. and Flint, Lisa and García-Cazorla, Àngels and Gijavanekar, Charul and G{\"u}m{\"u}ş, Emel Yılmaz and Hamad, Muddathir H. and Hişmi, Burcu and Honzik, Tomas and Kuseyri H{\"u}bschmann, Oya and Hwu, Wuh-Liang and Ibáñez-Micó, Salvador and Jeltsch, Kathrin and Juliá-Palacios, Natalia and Kasapkara, Çiğdem Seher and Kurian, Manju A. and Kusmierska, Katarzyna and Liu, Ning and Ngu, Lock Hock and Odom, John D. and Ong, Winnie Peitee and Opladen, Thomas and Oppeboen, Mari and Pearl, Phillip L. and Pérez, Belén and Pons, Roser and Rygiel, Agnieszka Magdalena and Shien, Tan Ee and Spaull, Robert and Sykut-Cegielska, Jolanta and Tabarki, Brahim and Tangeraas, Trine and Th{\"o}ny, Beat and Wassenberg, Tessa and Wen, Yongxin and Yakob, Yusnita and Yin, Jasmine Goh Chew and Zeman, Jiri and Blau, Nenad},
  title={Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes},
  year={2023},
  pages={1-15},
  language={eng},
  issn={1096-7206},
  volume={139},
  note={Online verf{\"u}gbar: 2. Juni 2023, Artikelversion: 20. Juni 2023 ; Gesehen am 09.08.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.107624},
}
@article{UBHD-69240421,
  author={Julià-Palacios, Natalia and Kuseyri H{\"u}bschmann, Oya and Olivella, Mireia and Pons, Roser and Horvath, Gabriella and L{\"u}cke, Thomas and Fung, Cheuk-Wing and Wong, Suet-Na and Cortès-Saladelafont, Elisenda and Rovira-Remisa, M. Mar and Yıldız, Yılmaz and Mercimek-Andrews, Saadet and Assmann, Birgit and Stevanović, Galina and Manti, Filippo and Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Jeltsch, Kathrin and Sivri, H. Serap and Garbade, Sven and García-Cazorla, Àngels and Opladen, Thomas},
  title={The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency},
  year={2024},
  pages={447-462},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={3 vom: Mai},
  note={Zuerst ver{\"o}ffentlicht: 18. M{\"a}rz 2024 ; Gesehen am 05.08.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12723},
}
@article{UBHD-68098197,
  author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas},
  title={Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1},
  year={2017},
  pages={38-41},
  language={eng},
  issn={1876-7753},
  volume={20},
  note={Gesehen am 21.03.2017},
  journal={Stem cell research},
  doi={10.1016/j.scr.2017.02.010},
  url={http://dx.doi.org/10.1016/j.scr.2017.02.010},
  library={UB},
}
@article{UBHD-68067129,
  author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas},
  title={Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC},
  year={2016},
  pages={580-583},
  language={eng},
  issn={1876-7753},
  volume={17},
  number={3},
  note={Gesehen am 21.12.2016},
  journal={Stem cell research},
  doi={10.1016/j.scr.2016.10.008},
  url={http://dx.doi.org/10.1016/j.scr.2016.10.008},
  library={UB},
}
@article{UBHD-68379590,
  author={Jung-Klawitter, Sabine and Opladen, Thomas},
  title={Generation of 2 iPSC clones from a patient with DNAJC12 deficiency},
  subtitle={DHMCi003-A and DHMCi003-B},
  year={2019},
  pages={5 S.},
  language={eng},
  issn={1876-7753},
  volume={36(2019) Artikel-Nummer 101402},
  number={5 Seiten},
  note={Gesehen am 10.04.2019},
  journal={Stem cell research},
  doi={10.1016/j.scr.2019.101402},
  url={https://doi.org/10.1016/j.scr.2019.101402},
  library={UB},
}
@article{UBHD-68451976,
  author={Jung-Klawitter, Sabine and Opladen, Thomas},
  title={Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism},
  year={2018},
  pages={1103-1116},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={6},
  note={Gesehen am 07.11.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-018-0225-9},
}
@article{UBHD-69199807,
  author={Jung-Klawitter, Sabine and Richter, Petra and Yuan, Yuheng and Welzel, Karin and Kube, Marie and B{\"a}hr, Stella and Leibner, Alexander and Flory, Egbert and Opladen, Thomas},
  title={Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1573-2665},
  number={online version of record},
  note={Gesehen am 11.04.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12690},
}
@article{UBHD-68265312,
  author={Karin, Ivan and Opladen, Thomas and Blau, Nenad},
  title={Folinic acid therapy in cerebral folate deficiency},
  subtitle={marked improvement in an adult patient},
  year={2017},
  pages={578-582},
  language={eng},
  issn={1432-1459},
  volume={264},
  number={3},
  note={Published online: 4 January 2017 ; Gesehen am 26.06.2018},
  journal={Journal of neurology},
  doi={10.1007/s00415-016-8387-6},
}
@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-68647966,
  author={Klinke, Glynis and Richter, Sylvia and Monostori, Péter and Schmidt‐Mader, Brigitte and García‐Cazorla, Angels and Artuch, Rafael and Christ, Stine and Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad and Okun, J{\"u}rgen G.},
  title={Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform},
  year={2020},
  pages={712-725},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={4},
  note={Gesehen am 13.10.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12213},
  url={https://doi.org/10.1002/jimd.12213},
  library={UB},
}
@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-67825925,
  author={Koht, Jeanette and Opladen, Thomas},
  title={Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene},
  year={2014},
  pages={7-12},
  language={eng},
  issn={1600-0404},
  volume={129},
  number={198},
  note={Gesehen am 02.06.2015},
  journal={Acta neurologica Scandinavica},
  doi={10.1111/ane.12230},
}
@article{UBHD-69313977,
  author={K{\"u}per, Katharina and Poschet, Gernot and Rossmann, Julia and Garbade, Sven and Spiegelhalter, Alexander and Wen, Dan and Hoffmann, Georg F. and Schmitt, Claus P. and Opladen, Thomas and Peters, Verena},
  title={Dipeptides in CSF and plasma},
  subtitle={diagnostic and therapeutic potential in neurological diseases},
  year={2025},
  pages={1-9},
  language={eng},
  issn={1438-2199},
  volume={57},
  number={Artikel-ID 2},
  note={Ver{\"o}ffentlicht: 13. Dezember 2024 ; Gesehen am 03.03.2025},
  journal={Amino acids},
  doi={10.1007/s00726-024-03434-1},
}
@incollection{UBHD-69117806,
  author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas},
  title={Aromatic L-amino acid decarboxylase deficiency},
  year={2020},
  pages={?},
  language={eng},
  note={Gesehen am 31.08.2023},
  booktitle={Orphanet},
}
@article{UBHD-69107870,
  author={Kuseyri H{\"u}bschmann, Oya and Mohr, Alexander and Friedman, Jennifer and Manti, Filippo and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Mercimek-Andrews, Saadet and Yildiz, Yilmaz and Pons, Roser and Kulhánek, Jan and Oppebøen, Mari and Koht, Jeanette Aimee and Podzamczer-Valls, Inés and Domingo-Jimenez, Rosario and Ibáñez, Salvador and Alcoverro-Fortuny, Oscar and Gómez-Alemany, Teresa and de Castro, Pedro and Alfonsi, Chiara and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Guder, Philipp and Santer, René and Honzík, Tomáš and Hoffmann, Georg F. and Garbade, Sven and Sivri, H. Serap and Leuzzi, Vincenzo and Jeltsch, Kathrin and García-Cazorla, Angeles and Opladen, Thomas and Harting, Inga},
  title={Brain MR patterns in inherited disorders of monoamine neurotransmitters},
  subtitle={an analysis of 70 patients},
  year={2021},
  pages={1070-1082},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={4 vom: Juli},
  note={Online ver{\"o}ffentlicht: 14. Januar 2021 ; Gesehen am 09.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12360},
  url={https://doi.org/10.1002/jimd.12360},
  library={UB},
}
@incollection{UBHD-69117808,
  author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas and Wassenberg, Tessa},
  title={Dopamine beta-hydroxylase deficiency},
  year={2021},
  pages={?},
  language={eng},
  note={Gesehen am 31.08.2023},
  booktitle={Orphanet},
}
@article{UBHD-68909440,
  author={Kuseyri H{\"u}bschmann, Oya and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Yıldız, Yılmaz and Pons, Roser and Friedman, Jennifer and Mercimek-Andrews, Saadet and Wong, Suet-Na and Pearson, Toni S. and Zafeiriou, Dimitrios I. and Kulhánek, Jan and Kurian, Manju A. and López-Laso, Eduardo and Oppebøen, Mari and Kılavuz, Sebile and Wassenberg, Tessa and Goez, Helly and Scholl-B{\"u}rgi, Sabine and Porta, Francesco and Honzík, Tomáš and Santer, René and Burlina, Alberto and Sivri, H. Serap and Leuzzi, Vincenzo and Hoffmann, Georg F. and Jeltsch, Kathrin and H{\"u}bschmann, Daniel and Garbade, Sven F. and Assmann, Birgit and Fung, Cheuk-Wing and Guder, Philipp and Hong, Stacey Tay Kiat and Karall, Daniela and Kato, Mitsuhiro and Kavecan, Ivana and Koht, Jeanette Aimee and Kuster, Alice and L{\"u}cke, Thomas and Manti, Filippo and Mir, Pablo and M{\"u}hlhausen, Chris and {\"O}nenli Mungan, Halise Neslihan and Palacios, Natalia Alexandra Julia and Ramos, Joaquín Alejandro Fernández and Steel, Dora and Stevanović, Galina and Sykut-Cegielska, Jolanta and Verbeek, Marcel M. and García-Cazorla, Angeles and Opladen, Thomas},
  title={Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines},
  year={2021},
  pages={1-13},
  language={eng},
  issn={2041-1723},
  volume={12},
  number={Artikel-ID 5529},
  note={Gesehen am 21.04.2022},
  journal={Nature Communications},
  doi={10.1038/s41467-021-25515-5},
  url={https://doi.org/10.1038/s41467-021-25515-5},
  library={UB},
}
@article{UBHD-69107853,
  author={Kuseyri H{\"u}bschmann, Oya and Juliá-Palacios, Natalia Alexandra and Olivella, Mireia and Guder, Philipp and Zafeiriou, Dimitrios I. and Horvath, Gabriela Ana and Kulhánek, Jan and Pearson, Toni S. and Kuster, Alice and Cortès-Saladelafont, Elisenda and Ibáñez, Salvador and García-Jiménez, Maria Concepción and Honzík, Tomáš and Santer, René and Jeltsch, Kathrin and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and García-Cazorla, Ángeles},
  title={Integrative approach to predict severity in nonketotic hyperglycinemia},
  year={2022},
  pages={292-303},
  language={eng},
  issn={1531-8249},
  volume={92},
  number={2 vom: Aug.},
  note={Gesehen am 09.08.2023},
  journal={Annals of neurology},
  doi={10.1002/ana.26423},
}
@article{UBHD-68451755,
  author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas},
  title={Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders},
  year={2018},
  pages={849-863},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={5},
  note={Gesehen am 07.11.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-018-0169-0},
}
@article{UBHD-68862019,
  author={Longo, Carmen and Montioli, Riccardo and Bisello, Giovanni and Palazzi, Luana and Mastrangelo, Mario and Brennenstuhl, Heiko and Polverino de Laureto, Patrizia and Opladen, Thomas and Leuzzi, Vincenzo and Bertoldi, Mariarita},
  title={Compound heterozygosis in AADC deficiency},
  subtitle={a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins},
  year={2021},
  pages={147-155},
  language={eng},
  issn={1096-7206},
  volume={134},
  number={1/2},
  note={Gesehen am 29.04.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.08.011},
}
@article{UBHD-68244713,
  author={López-Laso, Eduardo and Opladen, Thomas},
  title={Dyskinesias as a limiting factor in the treatment of segawa disease},
  year={2012},
  pages={404-406},
  language={eng},
  issn={1873-5150},
  volume={46},
  number={6},
  note={Gesehen am 19.04.2018},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2012.03.003},
}
@article{UBHD-68971721,
  author={López-Laso, Eduardo and Sánchez-Raya, Araceli and Moriana, Juan Antonio and Martínez-Gual, Eduardo and Camino-León, Rafael and Mateos-González, María Elena and Pérez-Navero, Juan Luis and Ochoa-Sepúlveda, Juan José and Ormazabal, Aida and Opladen, Thomas and Klein, Christine and Lao-Villadóniga, José Ignacio and Beyer, Katrin and Artuch, Rafael},
  title={Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease},
  year={2011},
  pages={2155-2162},
  language={eng},
  issn={1432-1459},
  volume={258},
  number={12},
  note={Gesehen am 10.10.2022},
  journal={Journal of neurology},
  doi={10.1007/s00415-011-6079-9},
}
@article{UBHD-68951775,
  author={Mangold, Sarah Jasmin Laureen and Blau, Nenad and Opladen, Thomas and Steinfeld, Robert and Weßling, Britta and Zerres, Klaus and H{\"a}usler, Martin},
  title={Cerebral folate deficiency},
  subtitle={a neurometabolic syndrome?},
  year={2011},
  pages={369-372},
  language={eng},
  issn={1096-7206},
  volume={104},
  number={3},
  note={Gesehen am 09.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2011.06.004},
}
@article{UBHD-67877405,
  author={Mencacci, Niccolò E. and Opladen, Thomas},
  title={Parkinson's disease in GTP cyclohydrolase 1 mutation carriers},
  year={2014},
  pages={2480-2492},
  language={eng},
  issn={1460-2156},
  volume={137},
  number={9},
  note={Gesehen am 24.09.2015},
  journal={Brain},
  doi={10.1093/brain/awu179},
}
@article{UBHD-68333418,
  author={Meyburg, Jochen and Opladen, Thomas and Schenk, Jens-Peter and Schmidt, Jan and Weitz, J{\"u}rgen and Okun, J{\"u}rgen G. and B{\"u}rger, Friederike and K{\"o}lker, Stefan and Hoffmann, Georg F.},
  title={Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders},
  year={2018},
  pages={81-90},
  language={eng},
  issn={1573-2665},
  volume={41},
  number={1},
  note={First online: 12 October 2017 ; Gesehen am 28.11.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-017-0097-4},
}
@article{UBHD-68707476,
  author={Meyer, Robert and Opladen, Thomas},
  title={One test for all},
  subtitle={whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 42},
  note={Gesehen am 05.03.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-01683-x},
}
@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-67672315,
  author={Opladen, Thomas and Sengupta, Devjani and Moog, Ute and Fischer, Christine and B{\"u}rger, Friederike and Haas, Dorothea and Harting, Inga and Hoffmann, Georg F.},
  title={Aspartylglucosaminuria},
  subtitle={unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family},
  year={2014},
  pages={36-42},
  language={eng},
  issn={1708-8283},
  volume={29},
  number={1},
  note={Gesehen am 10.09.2014},
  journal={Journal of child neurology},
  doi={10.1177/0883073812469049},
}
@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-68639785,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-30},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 126},
  note={Im Text ist "4" tiefgestellt ; Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01379-8},
}
@article{UBHD-68639786,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Correction to},
  subtitle={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-5},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 202},
  note={Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01464-y},
}
@book{UBHD-67537141,
  author={Opladen, Thomas},
  title={Diagnostik, Therapie und Verlauf der St{\"o}rungen des zerebralen Neurotransmitter-, Pterin- und Folatstoffwechsels},
  year={2014},
  pages={Getr. Z{\"a}hlung},
  language={ger},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze in engl. Sprache},
  school={Heidelberg, Univ., Habil.-Schr., 2014},
  library={UB [Signatur: 2014 U 171]},
}
@article{UBHD-69086227,
  author={Opladen, Thomas and Blau, Nenad and Ramaekers, Vincent Th.},
  title={Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport},
  year={2010},
  pages={48-54},
  language={eng},
  issn={1096-7206},
  volume={101},
  number={1},
  note={Gesehen am 16.06.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2010.05.006},
}
@article{UBHD-68258268,
  author={Opladen, Thomas and Hoffmann, Georg F. and Blau, Nenad},
  title={An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia},
  year={2012},
  pages={963-973},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={6},
  note={Gesehen am 06.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9506-x},
}
@article{UBHD-68067142,
  author={Opladen, Thomas and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Jeltsch, Kathrin},
  title={The International Working Group on Neurotransmitter related Disorders (iNTD)},
  subtitle={a worldwide research project focused on primary and secondary neurotransmitter disorders},
  year={2016},
  pages={61-66},
  language={eng},
  issn={2214-4269},
  volume={9},
  note={Gesehen am 21.12.2016},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2016.09.006},
  url={http://dx.doi.org/10.1016/j.ymgmr.2016.09.006},
  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-68614286,
  author={Opladen, Thomas and Lindner, Martin and Das, Anibh M. and Marquardt, Thorsten and Khan, Aneal and Emre, Sukru H. and Burton, Barbara K. and Barshop, Bruce A. and B{\"o}hm, Thea and Meyburg, Jochen and Zangerl, Kathrin and Mayorandan, Sebene and Burgard, Peter and D{\"u}rr, Ulrich H. N. and Rosenkranz, Bernd and Rennecke, J{\"o}rg and Derbinski, Jens and Yudkoff, Marc and Hoffmann, Georg F.},
  title={In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis},
  year={2016},
  pages={19-26},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={1},
  note={Published online 2015 ; Im Titel ist die Zahl "13" hochgestellt ; Gesehen am 07.07.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2015.11.007},
}
@article{UBHD-69271917,
  author={Opladen, Thomas and Bertoldi, Mariarita},
  title={Neurotransmitters},
  subtitle={it is all about communication!},
  year={2024},
  pages={409-410},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={3 vom: M{\"a}rz},
  note={Gesehen am 08.11.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12748},
}
@article{UBHD-69086233,
  author={Opladen, Thomas and Okun, J{\"u}rgen G. and Burgard, Peter and Blau, Nenad and Hoffmann, Georg F.},
  title={Phenylalanine loading in pediatric patients with dopa-responsive dystonia},
  subtitle={revised test protocol and pediatric cutoff values},
  year={2010},
  pages={697-703},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={6 vom: Dez.},
  note={Gesehen am 16.06.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9164-9},
}
@article{UBHD-68810784,
  author={Opladen, Thomas and Hoffmann, Georg F. and K{\"u}hn, Andrea and Blau, Nenad},
  title={Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia},
  year={2013},
  pages={195-197},
  language={eng},
  issn={1096-7206},
  volume={108},
  number={3},
  note={Gesehen am 09.12.2021},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2013.01.001},
}
@article{UBHD-69043443,
  author={Opladen, Thomas and Gleich, Florian and Kozich, Viktor and Scarpa, Maurizio and Martinelli, Diego and Schaefer, Franz and Jeltsch, Kathrin and Juliá-Palacios, Natalia and García-Cazorla, Ángels and Dionisi-Vici, Carlo and K{\"o}lker, Stefan},
  title={U-IMD},
  subtitle={the first Unified European registry for inherited metabolic diseases},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 95},
  note={Gesehen am 20.02.2023},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-01726-3},
  url={https://doi.org/10.1186/s13023-021-01726-3},
  library={UB},
}
@article{UBHD-68680297,
  author={Pearson, Toni S. and Gilbert, Laura and Opladen, Thomas and Garcia-Cazorla, Angeles and Mastrangelo, Mario and Leuzzi, Vincenzo and Tay, Stacy K. H. and Sykut-Cegielska, Jolanta and Pons, Roser and Mercimek-Andrews, Saadet and Kato, Mitsuhiro and Luecke, Thomas and Oppeboen, Mari and Kurian, Manju A. and Steel, Dora and Manti, Filippo and Meeks, Kathleen D. and Jeltsch, Kathrin and Flint, Lisa},
  title={AADCdeficiency from infancy to adulthood},
  subtitle={Symptoms and developmental outcome in an international cohort of 63 patients},
  year={2020},
  pages={1121-1130},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={5},
  note={Gesehen am 15.01.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12247},
}
@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-69007727,
  author={Rossmann, Julia and Christ, Stine and Richter, Sylvia and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and Okun, J{\"u}rgen G.},
  title={Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid},
  year={2022},
  pages={1-9},
  language={eng},
  issn={1873-376X},
  volume={1212},
  number={Artikel-ID 123503},
  note={Gesehen am 18.01.2023},
  journal={Journal of chromatography},
  doi={10.1016/j.jchromb.2022.123503},
}
@article{UBHD-69107901,
  author={Roubertie, Agathe and Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Flint, Lisa and Willemsen, Michel A. and Leuzzi, Vincenzo and Cazorla, Angels Garcia and Kurian, Manju A. and François-Heude, Marie Céline and Hwu, Paul and Zeev, Bruria Ben and Kiening, Karl and Roujeau, Thomas and Pons, Roser and Pearson, Toni S.},
  title={Gene therapy for aromatic L-amino acid decarboxylase deficiency},
  subtitle={requirements for safe application and knowledge-generating follow-up},
  year={2023},
  pages={1-13},
  language={eng},
  issn={1573-2665},
  note={Gesehen am 09.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12649},
  url={https://doi.org/10.1002/jimd.12649},
  library={UB},
}
@article{UBHD-68929644,
  author={Scharping, Mara and Brennenstuhl, Heiko and Garbade, Sven and Wild, Beate and Posset, Roland and Zielonka, Matthias and K{\"o}lker, Stefan and Haun, Markus W. and Opladen, Thomas},
  title={Unmet needs of parents of children with Urea Cycle disorders},
  year={2022},
  pages={1-15},
  language={eng},
  issn={2227-9067},
  volume={9},
  note={Gesehen am 10.06.2022},
  journal={Children},
  doi={10.3390/children9050712},
  url={https://doi.org/10.3390/children9050712},
  library={UB},
}
@article{UBHD-68754593,
  author={Schleede, Lena and B{\"u}ter, Wolfgang and Baumgartner-Sigl, Sara and Opladen, Thomas and Weigt-Usinger, Katharina and Stephan, Susanne and Smitka, Martin and Leiz, Steffen and Kaiser, Olaf and Kraus, Verena and Baalen, Andreas van and Skopnik, Heino and Hartmann, Hans and Rostasy, Kevin and L{\"u}cke, Thomas and Schara, Ulrike and H{\"a}usler, Martin},
  title={Pediatric herpes simplex virus encephalitis},
  subtitle={a retrospective multicenter experience},
  year={2013},
  pages={321-331},
  language={eng},
  issn={1708-8283},
  volume={28},
  number={3},
  note={Gesehen am 01.07.2021},
  journal={Journal of child neurology},
  doi={10.1177/0883073812471428},
}
@article{UBHD-69064164,
  author={Schr{\"o}ter, Julian and Dattner, Tal and H{\"u}llein, Jennifer and Jayme, Alejandra and Heuveline, Vincent and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lenz, Dominic and Opladen, Thomas and Popp, Bernt and Schaaf, Christian P. and Staufner, Christian and Syrbe, Steffen and Uhrig, Sebastian and H{\"u}bschmann, Daniel and Brennenstuhl, Heiko},
  title={aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment},
  year={2023},
  pages={1077-1083},
  language={eng},
  issn={2001-0370},
  volume={21},
  note={Gesehen am 11.04.2023},
  journal={Computational and structural biotechnology journal},
  doi={10.1016/j.csbj.2023.01.027},
}
@article{UBHD-69101725,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64(2022) vom: Okt.},
  number={Artikel-ID 102879},
  note={Gesehen am 27.07.2023},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
  url={https://doi.org/10.1016/j.scr.2022.102879},
  library={UB},
}
@article{UBHD-68976684,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}ring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64},
  number={Artikel-ID 102879},
  note={Online verf{\"u}gbar 29 July 2022, Version des Artikels 2 August 2022 ; Gesehen am 20.10.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
}
@article{UBHD-68938289,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1876-7753},
  volume={62},
  number={Artikel-ID 102818},
  note={Gesehen am 06.07.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102818},
  url={https://doi.org/10.1016/j.scr.2022.102818},
  library={UB},
}
@article{UBHD-69292514,
  author={Tokatly Latzer, Itay and Roullet, Jean-Baptiste and Afshar-Saber, Wardiya and Lee, Henry H. C. and Bertoldi, Mariarita and McGinty, Gabrielle E. and DiBacco, Melissa L. and Arning, Erland and Tsuboyama, Melissa and Rotenberg, Alexander and Opladen, Thomas and Jeltsch, Kathrin and García-Cazorla, Àngels and Julià-Palacios, Natalia and Gibson, K. Michael and Sahin, Mustafa and Pearl, Phillip L.},
  title={Clinical and molecular outcomes from the 5-Year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder},
  year={2024},
  pages={1-15},
  language={eng},
  issn={1866-1955},
  volume={16},
  note={Gesehen am 20.01.2025},
  journal={Journal of neurodevelopmental disorders},
  doi={10.1186/s11689-024-09538-9},
}
@article{UBHD-69206675,
  author={Tokatly Latzer, Itay and Roullet, Jean-Baptiste and Cesaro, Samuele and DiBacco, Melissa L. and Arning, Erland and Rotenberg, Alexander and Lee, Henry H. C. and Opladen, Thomas and Jeltsch, Kathrin and García-Cazorla, Àngels and Juliá-Palacios, Natalia and Gibson, K. Michael and Bertoldi, Mariarita and Pearl, Phillip L.},
  title={Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants},
  year={2023},
  pages={1755-1776},
  language={eng},
  issn={1432-1203},
  volume={142},
  number={12},
  note={Gesehen am 23.04.2024},
  journal={Human genetics},
  doi={10.1007/s00439-023-02613-6},
}
@article{UBHD-69214050,
  author={Tristán-Noguero, Alba and Borràs, Eva and Molero-Luis, Marta and Wassenberg, Tessa and Peters, Tessa and Verbeek, Marcel M. and Willemsen, Michel and Opladen, Thomas and Jeltsch, Kathrin and Pons, Roser and Thony, Beat and Horvath, Gabriella and Yapici, Zuhal and Friedman, Jennifer and Hyland, Keith and Agosta, Guillermo E. and López-Laso, Eduardo and Artuch, Rafael and Sabidó, Eduard and García-Cazorla, Àngels},
  title={Novel protein biomarkers of monoamine metabolism defects correlate with disease severity},
  year={2021},
  pages={690-703},
  language={eng},
  issn={1531-8257},
  volume={36},
  number={3 vom: M{\"a}rz},
  note={Online ver{\"o}ffentlicht: 05. November 2020 ; Gesehen am 15.05.2024},
  journal={Movement disorders},
  doi={10.1002/mds.28362},
}
@article{UBHD-68081729,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 12},
  number={21 Seiten},
  note={Gesehen am 08.02.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0522-z},
  url={http://dx.doi.org/10.1186/s13023-016-0522-z},
  library={UB},
}
@book{UBHD-68089929,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (21 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 12. pp. 1-21. ISSN 1750-1172},
  doi={10.1186/s13023-016-0522-z},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-225085},
  library={UB},
}
@article{UBHD-69107381,
  author={Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Akg{\"o}z Karaosmanoğlu, Ayça and Manti, Filippo and Karaca, Meryem and Schwartz, Ida Vanessa and Pons, Roser and López-Laso, Eduardo and Palacios, Natalia Alexandra Julia and Porta, Francesco and Kavecan, Ivana and Balcı, Mehmet Cihan and Dy-Hollins, Marisela E. and Wong, Suet-Na and Oppebøen, Mari and Medeiros, Leonardo Simão and de Paula, Leila Cristina Pedroso and García-Cazorla, Angeles and Hoffmann, Georg F. and Jeltsch, Kathrin and Leuzzi, Vincenzo and G{\"o}kçay, G{\"u}lden and H{\"u}bschmann, Daniel and Harting, Inga and {\"O}z{\"o}n, Z. Alev and Sivri, Serap and Opladen, Thomas},
  title={Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1573-2665},
  note={Gesehen am 08.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12658},
  url={https://doi.org/10.1002/jimd.12658},
  library={UB},
}
@article{UBHD-68724054,
  author={Zech, Michael and Wolf, Marc and Assmann, Birgit and Staufner, Christian and Opladen, Thomas},
  title={Monogenic variants in dystonia},
  subtitle={an exome-wide sequencing study},
  year={2020},
  pages={908-918},
  language={eng},
  issn={1474-4465},
  volume={19},
  number={11},
  note={Gesehen am 15.04.2021},
  journal={The lancet},
  doi={10.1016/S1474-4422(20)30312-4},
}
@article{UBHD-68647364,
  author={Zielonka, Matthias and Makhseed, Nawal and Blau, Nenad and Bettendorf, Markus and Hoffmann, Georg F. and Opladen, Thomas},
  title={Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency},
  year={2015},
  pages={109-113},
  language={eng},
  issn={2192-8312},
  volume={24},
  note={Gesehen am 12.10.2020},
  journal={JIMD reports},
  doi={10.1007/8904_2015_450},
}