@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-68405382,
  author={Garbade, Sven and Himmelreich, Nastassja and Haas, Dorothea and Trefz, Friedrich K. and Hoffmann, Georg F. and Burgard, Peter and Blau, Nenad},
  title={Allelic phenotype values},
  subtitle={a model for genotype-based phenotype prediction in phenylketonuria},
  year={2019},
  pages={580-590},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={3},
  note={Published: 12 July 2018 ; Gesehen am 05.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0081-x},
}
@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},
}
@book{UBHD-67791069,
  author={Himmelreich, Nastassja},
  title={Analyse der Signaltransduktion w{\"a}hrend der fr{\"u}hen Embryogenese in einem Xenopus-laevis-Modell zu 'PMM2-CDG'},
  year={2015},
  pages={XVI, 160 S.},
  language={ger},
  note={Zsfassung in engl. Sprache},
  school={Heidelberg, Univ., Diss., 2015},
  library={UB [Signatur: 2015 U 146]},
}
@book{UBHD-67934994,
  author={Himmelreich, Nastassja},
  title={Analyse der Signaltransduktion w{\"a}hrend der fr{\"u}hen Embryogenese in einem Xenopus laevis- Modell zu ‚PMM2-CDG‘},
  address={Heidelberg},
  year={2016},
  pages={1 Online-Ressource (180 Seiten)},
  language={ger},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2015},
  doi={10.11588/heidok.00018165},
  url={http://www.ub.uni-heidelberg.de/archiv/18165},
  library={UB},
}
@article{UBHD-68496538,
  author={Himmelreich, Nastassja and Montioli, Riccardo and Bertoldi, Mariarita and Carducci, Carla and Leuzzi, Vincenzo and Gemperle, Corinne and Berner, Todd and Hyland, Keith and Th{\"o}ny, Beat and Hoffmann, Georg F. and Voltattorni, Carla B. and Blau, Nenad},
  title={Aromatic amino acid decarboxylase deficiency},
  subtitle={Molecular and metabolic basis and therapeutic outlook},
  year={2019},
  pages={12-22},
  language={eng},
  issn={1096-7206},
  volume={127},
  number={1},
  note={Available online 27 March 2019 ; Gesehen am 04.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2019.03.009},
}
@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-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-68634307,
  author={Himmelreich, Nastassja and Kaufmann, Lilian 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-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-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-69292440,
  author={Himmelreich, Nastassja and Ramón-Maiques, Santiago and Navarrete, Rosa and Castejon-Fernandez, Natalia and Garbade, Sven and Martinez, Aurora and Desviat, Lourdes R. and Pérez, Belén and Blau, Nenad},
  title={Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants},
  subtitle={a PAH landscape},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1096-7206},
  volume={142},
  note={Online verf{\"u}gbar 13 June 2024, Version des Artikels 20 June 2024 ; Gesehen am 20.01.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108514},
}
@article{UBHD-69008995,
  author={Himmelreich, Nastassja and Montioli, Riccardo and Garbade, Sven and Kopesky, Jeffrey and Elsea, Sarah H. and Carducci, Carla and Voltattorni, Carla B. and Blau, Nenad},
  title={Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations},
  year={2022},
  pages={359-381},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={4},
  note={Online verf{\"u}gbar 12 November 2022, Artikelversion 22 November 2022 ; Gesehen am 23.01.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.11.003},
}
@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},
}
@article{UBHD-68392747,
  author={Jung, Kunwar and Himmelreich, Nastassja and Blau, Nenad},
  title={Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12},
  year={2019},
  pages={483-494},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={4},
  note={Gesehen am 24.05.2019},
  journal={Human mutation},
  doi={10.1002/humu.23712},
}
@article{UBHD-68382170,
  author={Muniz, Joao R. C. and Himmelreich, Nastassja and Blau, Nenad},
  title={Role of protein structure in variant annotation},
  subtitle={structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency},
  year={2019},
  pages={274-280},
  language={eng},
  issn={1465-3931},
  volume={51},
  number={3},
  note={Gesehen am 24.04.2019},
  journal={Pathology},
  doi={10.1016/j.pathol.2018.11.011},
}
@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},
}
@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-68556374,
  author={Spronsen, F. J. van and Himmelreich, Nastassja and R{\"u}fenacht, Véronique and Shen, Nan and Vliet, Danique van and Al-Owain, Mohammed and Ramzan, Khushnooda and Alkhalifi, Salwa M. and Lunsing, Roelineke J. and Heiner-Fokkema, Rebecca M. and Rassi, Anahita and Gemperle-Britschgi, Corinne and Hoffmann, Georg F. and Blau, Nenad and Th{\"o}ny, Beat},
  title={Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia},
  subtitle={from attention deficit to severe dystonia and intellectual disability},
  year={2018},
  pages={249-253},
  language={eng},
  issn={1468-6244},
  volume={55},
  number={4},
  note={Gesehen am 23.03.2020 ; Published online first 9 August 2017},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2017-104875},
}
@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},
}