@article{UBHD-68378357,
  author={Abu Bakar, Nurulamin and Thiel, Christian},
  title={Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency},
  year={2018},
  pages={62-76},
  language={eng},
  issn={1878-1810},
  volume={199},
  note={Gesehen am 03.04.2019},
  journal={Translational research},
  doi={10.1016/j.trsl.2018.04.008},
}
@article{UBHD-69166034,
  author={Achleitner, Melanie T. and Jans, Judith J. M. and Ebner, Laura and Spenger, Johannes and Konstantopoulou, Vassiliki and Feichtinger, René G. and Brugger, Karin and Mayr, Doris and Wevers, Ron A. and Thiel, Christian and Wortmann, Saskia B. and Mayr, Johannes A.},
  title={PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening},
  year={2023},
  pages={1-14},
  language={eng},
  issn={2218-1989},
  volume={13},
  note={Gesehen am 26.01.2024},
  journal={Metabolites},
  doi={10.3390/metabo13111141},
}
@article{UBHD-68447561,
  author={Altassan, Ruqaiah and Hutter, Anna-Marlen and Thiel, Christian},
  title={International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation},
  subtitle={Diagnosis, treatment and follow up},
  year={2019},
  pages={5-28},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={1},
  note={Gesehen am 29.10.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12024},
}
@book{UBHD-68970801,
  author={Beedgen, Lars and H{\"u}llen, Andreas and Jakab, Sevinç and Thumberger, Thomas and Wittbrodt, Joachim and Thiel, Christian},
  title={A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies},
  publisher={Sage Publications},
  address={London},
  year={2022},
  pages={1 Online-Ressource (9 Seiten)},
  language={eng},
  note={In: Laboratory Animals, 56 (2022), Nr. 3. pp. 270-278. ISSN 0023-6772 (Druck-Ausg.); 1758-1117 (Online-Ausg.)},
  doi={10.11588/heidok.00031793},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-317939},
  library={UB},
}
@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-68509294,
  author={Dimitrov, Bianca and Himmelreich, Nastassja and L{\"u}chtenborg, Christian and Okun, J{\"u}rgen G. and Breuer, Maximilian and Hutter, Anna-Marlen and Carl, Matthias and Guglielmi, Luca and Hellwig, Andrea and Thiemann, Kai Christian and Jost, Markus and Peters, Verena and Staufner, Christian and Hoffmann, Georg F. and Paramasivam, Nagarajan and Eils, Roland and Strahl, Sabine and Br{\"u}gger, Britta and Korenke, Christoph and Thiel, Christian},
  title={Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG},
  year={2018},
  pages={364-374},
  language={eng},
  issn={1096-7206},
  volume={123},
  number={3},
  note={Gesehen am 12.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.01.008},
}
@article{UBHD-69042759,
  author={Drijvers, Jefte M. and Lefeber, Dj and De Munnik, Sa and Pfundt, R and Van De Leeuw, N and Marcelis, C and Thiel, Christian and Koerner, C and Wevers, Ra and Morava, E},
  title={Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations},
  year={2010},
  pages={507-509},
  language={eng},
  issn={1399-0004},
  volume={77},
  number={5},
  note={Gesehen am 16.02.2023},
  journal={Clinical genetics},
  doi={10.1111/j.1399-0004.2009.01349.x},
}
@article{UBHD-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian Tamara 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-68787543,
  author={Feichtinger, René and H{\"u}llen, Andreas and Koller, Andreas and Kotzot, Dieter and Grote, Valerian and Rapp, Erdmann and Hofbauer, Peter and Brugger, Karin and Thiel, Christian and Mayr, Johannes A. and Wortmann, Saskia B.},
  title={A spoonful of L-fucose},
  subtitle={an efficient therapy for GFUS-CDG, a new glycosylation disorder},
  year={2021},
  pages={1-15},
  language={eng},
  issn={1757-4684},
  volume={13},
  note={Gesehen am 07.10.2021},
  journal={EMBO molecular medicine},
  doi={10.15252/emmm.202114332},
}
@article{UBHD-68414488,
  author={Fischer-Zirnsak, Bj{\"o}rn and Haußer-Siller, Ingrid and Thiel, Christian},
  title={SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy},
  year={2019},
  pages={609-616},
  language={eng},
  issn={1435-232X},
  volume={64},
  number={7},
  note={Gesehen am 31.07.2019},
  journal={Journal of human genetics},
  doi={10.1038/s10038-019-0602-8},
}
@article{UBHD-68583785,
  author={Frongia, Giovanni and Nickkholgh, Arash and Hafezi, Mohammadreza and Arvin, Jalal and Saffari, Arash and Golriz, Mohammad and Aydin, Esvad and Weih, Sandra and Kessler, Markus and Emami, Golnaz and Garoussi, Camelia and Okun, J{\"u}rgen G. and Schmidt, Kathrin V. and Thiel, Christian and Brune, Maik and G{\"u}nther, Patrick and Holland-Cunz, Stefan and Mehrabi, Arianeb},
  title={Significance of the extent of intestinal resection on the outcome of a short-bowel syndrome in a porcine model},
  year={2016},
  pages={57-65},
  language={eng},
  issn={1521-0553},
  volume={29},
  number={1},
  note={Published online: 16 Sep 2015 ; Gesehen am 04.06.2020},
  journal={Journal of investigative surgery},
  doi={10.3109/08941939.2015.1057304},
}
@article{UBHD-68876673,
  author={G{\"o}rlacher, Marlen and Panagiotou, Eleftheria and Himmelreich, Nastassja and H{\"u}llen, Andreas and Beedgen, Lars and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Peters, Verena and Strahl, Sabine and Vazquez Jimenez, Jaime and Kerst, Gunter and Thiel, Christian},
  title={Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects},
  year={2020},
  pages={1-6},
  language={eng},
  issn={2214-4269},
  volume={25(2020) vom: Dez.},
  number={Artikel-ID 100673},
  note={Gesehen am 11.02.2022},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2020.100673},
}
@article{UBHD-68455208,
  author={Gr{\"u}nert, Sarah and Thiel, Christian},
  title={Unsuccessful intravenous D-mannose treatment in PMM2-CDG},
  year={2019},
  pages={6 S.},
  language={eng},
  issn={1750-1172},
  volume={14(2019) Artikel-Nummer 231},
  number={6 Seiten},
  note={Gesehen am 14.11.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1213-3},
}
@article{UBHD-67841112,
  author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F. and Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter},
  title={Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy},
  year={2015},
  pages={163-169},
  language={eng},
  issn={1537-6605},
  volume={97},
  number={1},
  note={Gesehen am 17.02.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2015.05.009},
}
@article{UBHD-69123388,
  author={Himmelreich, Nastassja and Kikul, Frauke and Zdrazilova, Lucie and Honzik, Tomáš and Hecker, Andreas and Poschet, Gernot and L{\"u}chtenborg, Christian and Br{\"u}gger, Britta and Strahl, Sabine and B{\"u}rger, Friederike and Okun, J{\"u}rgen G. and Hansikova, Hana and Thiel, Christian},
  title={Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches},
  year={2023},
  pages={1-10},
  language={eng},
  issn={1096-7206},
  volume={139},
  note={Online verf{\"u}gbar 16 May 2023, Version des Artikels 26 May 2023 ; Gesehen am 20.09.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.107610},
}
@article{UBHD-68634307,
  author={Himmelreich, Nastassja and Kaufmann, Lilian Tamara and Steinbeisser, Herbert and K{\"o}rner, Christian and Thiel, Christian},
  title={Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling},
  year={2015},
  pages={1137-1146},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 03.09.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9874-0},
}
@article{UBHD-68957716,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Zielonka, Matthias and H{\"u}llen, Andreas and Hoffmann, Georg F. and Juenger, Hendrik and M{\"u}ller, Herbert and Lorenz, Imke and Busse, Birgit and Marschall, Christoph and Schl{\"u}ter, Gregor and Thiel, Christian},
  title={Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature},
  year={2022},
  pages={274-281},
  language={eng},
  issn={1096-7206},
  volume={136},
  number={4},
  note={Gesehen am 28.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.06.005},
}
@article{UBHD-68465873,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Hutter, Anna-Marlen and Beedgen, Lars and H{\"u}llen, Andreas and Breuer, Maximilian and Peters, Verena and Thiemann, Kai Christian and Hoffmann, Georg F. and Sinning, Irmgard and Ziegler, Andreas and Thiel, Christian},
  title={Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus},
  year={2019},
  pages={938-951},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={7},
  note={Gesehen am 10.12.2019},
  journal={Human mutation},
  doi={10.1002/humu.23764},
}
@article{UBHD-68476504,
  author={Himmelreich, Nastassja and Shen, Nan and Okun, J{\"u}rgen G. and Thiel, Christian and Hoffmann, Georg F. and Blau, Nenad},
  title={Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria},
  year={2018},
  pages={86-95},
  language={eng},
  issn={1096-7206},
  volume={125},
  number={1},
  note={Available online 23 June 2018 ; Gesehen am 15.01.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.06.011},
}
@article{UBHD-68445729,
  author={Imle, Roland and Carl, Matthias and Himmelreich, Nastassja and Thiel, Christian and Gr{\"o}ne, Hermann-Josef and Poschet, Gernot and V{\"o}lkers, Mirko and G{\"u}low, Karsten and K{\"o}lker, Stefan and Sauer, Sven},
  title={ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing},
  year={2019},
  pages={12 S.},
  language={eng},
  issn={2045-2322},
  volume={9(2019) Artikel-Nummer 14248},
  number={12 Seiten},
  note={Gesehen am 25.10.2019},
  journal={Scientific reports},
  doi={10.1038/s41598-019-50566-6},
}
@article{UBHD-69305030,
  author={Interdonato, Livia and Himmelreich, Nastassja and Garbade, Sven and Wen, Dan and Morath, Marina and Di Paola, Rosanna and Calabrese, Vittorio and Thiel, Christian and Peters, Verena},
  title={Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation},
  year={2024},
  pages={1-5},
  language={eng},
  issn={1096-7206},
  volume={143},
  note={Online verf{\"u}gbar 30 August 2024, Version des Artikels 3 September 2024 ; Gesehen am 17.02.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108571},
}
@incollection{UBHD-69186005,
  author={Jakab, Sevinç and Sakson, Roman and Hoffmann, Marcus and Grote, Valerian and Beedgen, Lars and Thiel, Christian and Rapp, Erdmann and Ruppert, Thomas and Wittbrodt, Joachim and Thumberger, Thomas},
  title={The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa},
  year={2020},
  pages={1-40},
  language={eng},
  note={Gesehen am 27.02.2024},
  booktitle={bioRxiv beta},
  doi={10.1101/2020.08.20.260430},
}
@article{UBHD-68752593,
  author={Jakab, Sevinç and Sakson, Roman and Hoffmann, Marcus and Grote, Valerian and Becker, Clara and Pakari, Kaisa and Beedgen, Lars and Thiel, Christian and Rapp, Erdmann and Ruppert, Thomas and Thumberger, Thomas and Wittbrodt, Joachim},
  title={A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1477-9129},
  volume={148},
  note={Gesehen am 25.06.2021},
  journal={Development},
  doi={10.1242/dev.199385},
}
@article{UBHD-68201819,
  author={Lehmann, Lorenz and Jebessa, Zegeye Hailu and Kreußer, Michael and Horsch, Axel and He, Tao and Kronlage, Mariya and Dewenter, Matthias and Sramek, Viviana and Oehl, Ulrike and Krebs-Haupenthal, Jutta and Ritterhoff, Julia and Finke, Daniel and V{\"o}lkers, Mirko and Jungmann, Andreas and Sauer, Sven and Thiel, Christian and Sticht, Carsten and Gretz, Norbert and Camacho Londoño, Juan Eduardo and Meder, Benjamin and Freichel, Marc and Gr{\"o}ne, Hermann-Josef and Most, Patrick and M{\"u}ller, Oliver J. and Herzig, Stephan and Furlong, Eileen E. M. and Katus, Hugo and Backs, Johannes},
  title={A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway},
  year={2018},
  pages={62-72},
  language={eng},
  issn={1546-170X},
  volume={24},
  number={1},
  note={Published online 4 December 2017 ; Gesehen am 11.07.2018},
  journal={Nature medicine},
  doi={10.1038/nm.4452},
  url={http://dx.doi.org/10.1038/nm.4452},
  library={UB},
}
@article{UBHD-68494004,
  author={Lenz, Dominic and Thiel, Christian and Straub, Beate Katharina and Harting, Inga and Dimitrov, Bianca and Kotzaeridou, Urania and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)},
  year={2018},
  pages={1255-1265},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={10},
  note={Gesehen am 27.02.2020},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.260},
}
@article{UBHD-68586912,
  author={Massa Lopez, David and Thelen, Melanie and Stahl, Felix and Thiel, Christian and Linhorst, Arne and Sylvester, Marc and Hermanns-Borgmeyer, Irm and L{\"u}llmann-Rauch, Renate and Eskild, Winnie and Saftig, Paul and Damme, Markus},
  title={The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP},
  year={2019},
  pages={27 S.},
  language={eng},
  issn={2050-084X},
  volume={8(2019) Artikel-Nummer e50025},
  number={27 Seiten},
  note={Gesehen am 15.06.2020},
  journal={eLife},
  doi={10.7554/eLife.50025},
}
@article{UBHD-68557903,
  author={Medina-Cano, Daniel and Ucuncu, Ekin and Nguyen, Lam Son and Nicouleau, Michael and Lipecka, Joanna and Bizot, Jean-Charles and Thiel, Christian and Foulquier, François and Lefort, Nathalie and Faivre-Sarrailh, Catherine and Colleaux, Laurence and Guerrera, Ida Chiara and Cantagrel, Vincent},
  title={High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect},
  year={2018},
  pages={27 S.},
  language={eng},
  issn={2050-084X},
  volume={7(2018) Artikel-Nummer e38309},
  number={27 Seiten},
  note={Gesehen am 25.03.2020},
  journal={eLife},
  doi={10.7554/eLife.38309},
}
@article{UBHD-68635549,
  author={Morava-Kozicz, Eva and Tiemes, Vera and Thiel, Christian and Seta, Nathalie and Lonlay, Pascale de and Klerk, Hans de and Mulder, Margot and Rubio‐Gozalbo, Estela and Visser, Gepke and Hasselt, Peter van and Horovitz, Dafne D. G. and Souza, Carolina Fischinger Moura de and Schwartz, Ida V. D. and Green, Andrew and Al‐Owain, Mohammed and Uziel, Graciella and Sigaudy, Sabine and Chabrol, Brigitte and Spronsen, Franc-Jan van and Steinert, Martin and Komini, Eleni and Wurm, Donald and Bevot, Andrea and Ayadi, Addelkarim and Huijben, Karin and Dercksen, Marli and Witters, Peter and Jaeken, Jaak and Matthijs, Gert and Lefeber, Dirk J. and Wevers, Ron A.},
  title={ALG6-CDG},
  subtitle={a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies},
  year={2016},
  pages={713-723},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Gesehen am 08.09.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9945-x},
}
@article{UBHD-68635542,
  author={Morava-Kozicz, Eva and Tiemes, Vera and Thiel, Christian and Seta, Nathalie and Lonlay, Pascale de and Klerk, Hans de and Mulder, Margot and Rubio‐Gozalbo, Estela and Visser, Gepke and Hasselt, Peter van and Horovitz, Dafne D. G. and Souza, Carolina Fischinger Moura de and Schwartz, Ida V. D. and Green, Andrew and Al‐Owain, Mohammed and Uziel, Graciella and Sigaudy, Sabine and Chabrol, Brigitte and Spronsen, Franc-Jan van and Steinert, Martin and Komini, Eleni and Wurm, Donald and Bevot, Andrea and Ayadi, Addelkarim and Huijben, Karin and Dercksen, Marli and Witters, Peter and Jaeken, Jaak and Matthijs, Gert and Lefeber, Dirk J. and Wevers, Ron A.},
  title={Erratum to},
  subtitle={ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies},
  year={2016},
  pages={759-759},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Gesehen am 08.09.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9967-4},
}
@article{UBHD-68320060,
  author={Nolting, Kristine and Thiel, Christian},
  title={Limitations of galactose therapy in phosphoglucomutase 1 deficiency},
  year={2017},
  pages={33-40},
  language={eng},
  issn={2214-4269},
  volume={13},
  note={Available online 31 July 2017 ; Gesehen am 23.10.2018},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2017.07.010},
}
@article{UBHD-68803160,
  author={Noor, Sina Ibne and Hoffmann, Marcus and Rinis, Natalia and Bartels, Markus F. and Winterhalter, Patrick R. and H{\"o}lscher, Christina D. and Hennig, Rene and Himmelreich, Nastassja and Thiel, Christian and Ruppert, Thomas and Rapp, Erdmann and Strahl, Sabine},
  title={Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion},
  year={2021},
  pages={1-19},
  language={eng},
  issn={1083-351X},
  volume={296},
  number={Artikel-ID 100433},
  note={Gesehen am 18.11.2021},
  journal={The journal of biological chemistry},
  doi={10.1016/j.jbc.2021.100433},
}
@incollection{UBHD-69355305,
  author={Pakari, Kaisa and Jakab, Sevinç and Sánchez Salvador, Encarnación and Thiel, Christian and Wittbrodt, Joachim and Thumberger, Thomas},
  title={Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis},
  year={2025},
  pages={1-22},
  language={eng},
  note={Gesehen am 11.06.2025},
  booktitle={bioRxiv beta},
  doi={10.1101/2025.05.23.655727},
}
@article{UBHD-68487107,
  author={Péanne, Romain and Thiel, Christian},
  title={Congenital disorders of glycosylation (CDG)},
  subtitle={quo vadis?},
  year={2018},
  pages={643-663},
  language={eng},
  issn={1878-0849},
  volume={61},
  number={11},
  note={Available online: 25 October 2017 ; Gesehen am 10.02.2020},
  journal={European journal of medical genetics},
  doi={10.1016/j.ejmg.2017.10.012},
}
@article{UBHD-68291218,
  author={Peters, Verena and Schmitt, Claus P. and Weigand, Tim and Klingbeil, Kristina and Thiel, Christian and Berg, Antje van den and Nawroth, Peter Paul and Fleming, Thomas and Wagner, Andreas H. and Hecker, Markus},
  title={Allosteric inhibition of carnosinase (CN1) by inducing a conformational shift},
  year={2017},
  pages={1102-1110},
  language={eng},
  issn={1475-6374},
  volume={32},
  number={1},
  note={Gesehen am 01.08.2018},
  journal={Journal of enzyme inhibition and medicinal chemistry},
  doi={10.1080/14756366.2017.1355793},
}
@article{UBHD-69113879,
  author={Pfeffer, Tilman and Wetzel, Charlotte and Kirschner, Philip and Bartosova, Maria and Poth, Tanja and Schwab, Constantin and Poschet, Gernot and Zemva, Johanna and Bulkescher, Ruben and Damgov, Ivan and Thiel, Christian and Garbade, Sven and Klingbeil, Kristina and Peters, Verena and Schmitt, Claus P.},
  title={Carnosinase-1 knock-out reduces kidney fibrosis in type-1 diabetic mice on high fat diet},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2076-3921},
  volume={12},
  note={Gesehen am 18.08.2023},
  journal={Antioxidants},
  doi={10.3390/antiox12061270},
}
@article{UBHD-68403944,
  author={Radenkovic, Silvia and Himmelreich, Nastassja and Thiel, Christian},
  title={The metabolic map into the pathomechanism and treatment of PGM1-CDG},
  year={2019},
  pages={835-846},
  language={eng},
  issn={0002-9297},
  volume={104},
  number={5},
  note={Gesehen am 03.07.2019},
  journal={American journal of human genetics},
  doi={10.1016/j.ajhg.2019.03.003},
}
@article{UBHD-68618066,
  author={Rafiullah, Rafiullah and Aslamkhan, Muhammad and Paramasivam, Nagarajan and Thiel, Christian and Mustafa, Ghulam and Wiemann, Stefan and Schlesner, Matthias and Wade, Rebecca C. and Rappold, Gudrun and Berkel, Simone},
  title={Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family},
  year={2016},
  pages={138-144},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={2},
  note={Published Online First 13 November 2015 ; Gesehen am 17.07.2020},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103179},
}
@article{UBHD-69277218,
  author={Sakson, Roman and Beedgen, Lars and Bernhard, Patrick and Alp, K. Merve and L{\"u}bbehusen, Nicole and R{\"o}th, Ralph and Niesler, Beate and Luzarowski, Marcin and Shevchuk, Olga and Mayer, Matthias P. and Thiel, Christian and Ruppert, Thomas},
  title={Targeted proteomics reveals quantitative differences in low-abundance glycosyltransferases of patients with congenital disorders of glycosylation},
  year={2024},
  pages={1-17},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={25},
  note={Gesehen am 26.11.2024},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms25021191},
}
@article{UBHD-68109405,
  author={Sauer, Sven and Opp, Silvana and Mahringer, Anne and Kamiński, Marcin and Thiel, Christian and Okun, J{\"u}rgen G. and Fricker, Gert and Morath, Marina and K{\"o}lker, Stefan},
  title={Glutaric aciduria type I and methylmalonic aciduria},
  subtitle={simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus},
  year={2010},
  pages={552-560},
  language={eng},
  issn={1879-260X},
  volume={1802},
  number={6},
  note={Gesehen am 12.04.2017},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2010.03.003},
}
@article{UBHD-68494910,
  author={Shen, Nan and Heintz, Caroline and Thiel, Christian and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Blau, Nenad},
  title={Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation},
  year={2016},
  pages={328-335},
  language={eng},
  issn={1096-7206},
  volume={117},
  number={3},
  note={Gesehen am 28.02.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2016.01.004},
}
@article{UBHD-68576374,
  author={Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Lenz, Dominic and Hoffmann, Georg F.},
  title={Recurrent acute liver failure due to NBAS deficiency},
  subtitle={phenotypic spectrum, disease mechanisms, and therapeutic concepts},
  year={2016},
  pages={3-16},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={1},
  note={Published online: 5 November 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9896-7},
}
@article{UBHD-68285372,
  author={Taubenschmid, Jasmin and Jost, Markus and Thiel, Christian and K{\"o}rner, Christian},
  title={A vital sugar code for ricin toxicity},
  year={2017},
  pages={1351-1364},
  language={eng},
  issn={1748-7838},
  volume={27},
  number={11},
  note={Published online 19 September 2017 ; Gesehen am 13.07.2018},
  journal={Cell research},
  doi={10.1038/cr.2017.116},
}
@book{UBHD-67487540,
  author={Thiel, Christian},
  title={Angeborene Defekte der Glykosylierung in Mensch und Maus},
  year={2013},
  pages={Getr. Z{\"a}hlung},
  language={ger},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze in engl. Sprache},
  school={Heidelberg, Univ., Habil.-Schr., 2013},
  library={UB [Signatur: 2013 U 1010]},
}
@article{UBHD-68594241,
  author={Thiel, Christian},
  title={Christian K{\"o}rner},
  year={2015},
  pages={589-589},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={3},
  note={Gesehen am 30.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9835-7},
}
@article{UBHD-68873769,
  author={Thiel, Christian and Meßner-Schmitt, Dorothea and Hoffmann, Georg F. and K{\"o}rner, Christian},
  title={Screening for congenital disorders of glycosylation in the first weeks of life},
  year={2013},
  pages={887-892},
  language={eng},
  issn={1573-2665},
  volume={36},
  number={5},
  note={Published online: 19 September 2012 ; Gesehen am 03.02.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9531-9},
}
@article{UBHD-68873767,
  author={Thiel, Christian and K{\"o}rner, Christian},
  title={Therapies and therapeutic approaches in congenital disorders of glycosylation},
  year={2013},
  pages={77-84},
  language={eng},
  issn={1573-4986},
  volume={30},
  number={1},
  note={Published online: 16 September 2012 ; Gesehen am 03.02.2022},
  journal={Glycoconjugate journal},
  doi={10.1007/s10719-012-9447-5},
}
@article{UBHD-68275378,
  author={Van Damme, Tim and Haußer-Siller, Ingrid and Thiel, Christian and Korenke, Christoph},
  title={Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa},
  year={2017},
  pages={216-227},
  language={eng},
  issn={1537-6605},
  volume={100},
  number={2},
  note={Available online 5 January 2017 ; Gesehen am 05.07.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.12.010},
}
@article{UBHD-68403966,
  author={Weigand, Tim and Singler, Benjamin and Fleming, Thomas and Nawroth, Peter Paul and Thiel, Christian and Garbade, Sven and Wagner, Andreas H. and Hecker, Markus and Yard, Benito A. and Schmitt, Claus P. and Peters, Verena},
  editor={Amberger, Albert},
  title={Carnosine catalyzes the formation of the oligo/polymeric products of methylglyoxal},
  year={2018},
  pages={713-726},
  language={eng},
  issn={1421-9778},
  volume={46},
  number={2},
  note={Gesehen am 03.07.2019},
  journal={Cellular physiology and biochemistry},
  doi={10.1159/000488727},
}
@article{UBHD-68641228,
  author={Weigand, Tim and Colbatzky, Florian and Pfeffer, Tilman and Garbade, Sven and Klingbeil, Kristina and Becker, Michael and Zemva, Johanna and Bulkescher, Ruben and Sch{\"u}rfeld, Robin and Thiel, Christian and Volk, Nadine and Reuss, David and Hoffmann, Georg F. and Freichel, Marc and Hecker, Markus and Poth, Tanja and Fleming, Thomas and Poschet, Gernot and Schmitt, Claus P. and Peters, Verena},
  title={A global Cndp1-knock-out selectively increases renal carnosine and anserine concentrations in an age- and gender-specific manner in mice},
  year={2020},
  pages={1-20},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21},
  note={In der Verantwortlichkeitsangabe ist Herr Florian Colbatzky zweimal genannt ; Gesehen am 29.09.2020},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21144887},
}
@article{UBHD-68882819,
  author={Wilson, Matthew P. and Garanto, Alejandro and Pinto e Vairo, Filippo and Ng, Bobby G. and Ranatunga, Wasantha K. and Ventouratou, Marina and Baerenfaenger, Melissa and Huijben, Karin and Thiel, Christian and Ashikov, Angel and Keldermans, Liesbeth and Souche, Erika and Vuillaumier-Barrot, Sandrine and Dupré, Thierry and Michelakakis, Helen and Fiumara, Agata and Pitt, James and White, Susan M. and Lim, Sze Chern and Gallacher, Lyndon and Peters, Heidi and Rymen, Daisy and Witters, Peter and Ribes, Antonia and Morales-Romero, Blai and Rodríguez-Palmero, Agustí and Ballhausen, Diana and de Lonlay, Pascale and Barone, Rita and Janssen, Mirian C. H. and Jaeken, Jaak and Freeze, Hudson H. and Matthijs, Gert and Morava, Eva and Lefeber, Dirk J.},
  title={Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings},
  year={2021},
  pages={2130-2144},
  language={eng},
  issn={1537-6605},
  volume={108},
  number={11},
  note={Gesehen am 03.03.2022},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2021.09.012},
}
@article{UBHD-68313252,
  author={Wong, Sunnie Yan-Wai and Poschet, Gernot and Thiel, Christian},
  title={Oral D-galactose supplementation in PGM1-CDG},
  year={2017},
  pages={1226-1235},
  language={eng},
  issn={1530-0366},
  volume={19},
  number={11},
  note={Gesehen am 09.10.2018},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.41},
}
@article{UBHD-69318547,
  author={Wortmann, Saskia B. and Feichtinger, Rene G. and Abela, Lucia and van Gemert, Loes A. and Aubart, Mélodie and Dufeu-Berat, Claire-Marine and Boddaert, Nathalie and de Coo, Rene and St{\"u}hn, Lara and Hebbink, Jasmijn and Heinritz, Wolfram and Hildebrandt, Julia and Himmelreich, Nastassja and Korenke, Christoph and Lehman, Anna and Leyland, Thomas and Makowski, Christine and Martinez Marin, Rafael Jenaro and Marzin, Pauline and M{\"u}hlhausen, Chris and Rio, Marlène and Rotig, Agnes and Roux, Charles-Joris and Schiff, Manuel and Haack, Tobias B. and Syrbe, Steffen and Zylicz, Stas A. and Thiel, Christian and Veiga da Cunha, Maria and van Schaftingen, Emile and Wagner, Matias and Mayr, Johannes A. and Wevers, Ron A. and Boltshauser, Eugen and Willemsen, Michel A.},
  title={Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants},
  year={2024},
  pages={1-13},
  language={eng},
  issn={2376-7839},
  volume={10},
  note={Gesehen am 14.03.2025},
  journal={Neurology},
  doi={10.1212/NXG.0000000000200146},
}