@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},
}
@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-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},
}
@book{UBHD-68579900,
  author={Hutter, Anna-Marlen},
  title={Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den "Congenital Disorders of Glycosylation" (CDG)},
  address={Heidelberg},
  year={2020},
  pages={1 Online-Ressource (137 Seiten)},
  language={ger},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2020},
  doi={10.11588/heidok.00028327},
  keywords={CDG-Syndrom / Glykosylierung / Larsen-Syndrom},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-283274},
  library={UB},
}
@book{UBHD-68620453,
  author={Hutter, Anna-Marlen},
  organization={Universit{\"a}t Heidelberg},
  title={Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den "Congenital Disorders of Glycosylation" (CDG)},
  address={Heidelberg},
  year={2020},
  pages={X, 81, xliii Bl{\"a}tter},
  language={ger},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2020},
  keywords={CDG-Syndrom / Glykosylierung / Larsen-Syndrom},
  library={UB [Signatur: 2020 U 479]},
}