@book{UBHD-69028058,
  author={Beedgen, Lars},
  organization={Universit{\"a}t Heidelberg},
  title={Mevalonate kinase deficiency and its pathophysiological relevance in metabolism},
  address={Heidelberg},
  year={2022},
  pages={XIX, 175 Bl{\"a}tter},
  language={eng},
  school={Dissertation,  Ruprecht-Karls-University Heidelberg,  2022},
  library={UB [Signatur: 2023 U 39]},
}
@book{UBHD-68989039,
  author={Beedgen, Lars},
  title={Mevalonate kinase deficiency and its pathophysiological relevance in metabolism},
  address={Heidelberg},
  year={2022},
  pages={1 Online-Ressource (197 Seiten)},
  language={eng},
  school={Dissertation,  Ruprecht-Karls-University Heidelberg,  2022},
  doi={10.11588/heidok.00032405},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-324051},
  library={UB},
}
@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-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-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},
}
@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},
}