@book{UBHD-68255155, author={Breuer, Maximilian}, title={Characterizing the function and role of three dihydropteridine reductase homologs Qdpra, Qdprb1 and Qdprb2 in the embryonic development of Danio rerio}, address={Heidelberg}, year={2018}, pages={1 Online-Ressource (127 Seiten)}, language={eng}, school={Dissertation, Ruprecht-Karls-University of Heidelberg, 2018}, doi={10.11588/heidok.00024357}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-243579}, library={UB}, } @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}, } @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}, } @article{UBHD-68235495, author={Kopajtich, Robert and Breuer, Maximilian and Harting, Inga and Kotzaeridou, Urania and K{\"o}lker, Stefan and Sauer, Sven and Carl, Matthias and Hoffmann, Georg F. and Staufner, Christian}, title={Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy}, year={2016}, pages={414-422}, language={eng}, issn={1537-6605}, volume={99}, number={2}, note={Gesehen am 22.03.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2016.05.027}, } @article{UBHD-68341018, author={Zielonka, Matthias and Breuer, Maximilian and Okun, J{\"u}rgen G. and Carl, Matthias and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase}, year={2018}, pages={24 S.}, language={eng}, issn={1932-6203}, volume={13}, note={Gesehen am 17.12.2018}, journal={PLOS ONE}, doi={10.1371/journal.pone.0203707}, url={http://dx.doi.org/10.1371/journal.pone.0203707}, library={UB}, }