Himmelreich, Nastassja Dr. rer. nat.Universität HeidelbergHeidelberg
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Recent publications in heiBIB 
(In total there are 23 publications catalogued)
- Wortmann, Saskia B.: Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants / Saskia B. Wortmann, MD, PhD, Rene G. Feichtinger, PhD, Lucia Abela, MD, Loes A. van Gemert, MD, M´el… , April 5, 2024. - 13 S. : Illustrationen
In: Neurology, ISSN 2376-7839. 10(2024), 2 vom: Apr., Artikel-ID e200146, Seite 1-13
DOI: 10.1212/NXG.0000000000200146
- Interdonato, Livia: Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation / Livia Interdonato, Nastassja Himmelreich, Sven F. Garbade, Dan Wen, Marina Morath, Rosanna Di Paola,… , 3 September 2024. - 5 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 143(2024), 1/2 vom: Okt., Artikel-ID 108571, Seite 1-5
DOI: 10.1016/j.ymgme.2024.108571
- Himmelreich, Nastassja: Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants : a PAH landscape / Nastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, Natalia Castejon-Fernandez, Sven F. G… , July 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 3 vom: Juli, Artikel-ID 108514, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108514
- Himmelreich, Nastassja: Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , 7 July 2023. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 4, Artikel-ID 107647, Seite 1-5
DOI: 10.1016/j.ymgme.2023.107647
- Himmelreich, Nastassja: Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches / Nastassja Himmelreich, Frauke Kikul, Lucie Zdrazilova, Tomáš Honzik, Andreas Hecker, Gernot Poschet,… , 26 May 2023. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107610, Seite 1-10
DOI: 10.1016/j.ymgme.2023.107610
- Himmelreich, Nastassja: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , July 2023. - 15 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107624, Seite 1-15
DOI: 10.1016/j.ymgme.2023.107624
- Himmelreich, Nastassja: Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations / Nastassja Himmelreich, Riccardo Montioli, Sven F. Garbade, Jeffrey Kopesky, Sarah H. Elsea, Carla Ca… , 22 November 2022. - 23 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 359-381
DOI: 10.1016/j.ymgme.2022.11.003
- Himmelreich, Nastassja: 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 / Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann,… , 26 June 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 4, Seite 274-281
DOI: 10.1016/j.ymgme.2022.06.005
- Noor, Sina Ibne: Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion / Sina Ibne Noor, Marcus Hoffmann, Natalie Rinis, Markus F. Bartels, Patrick R. Winterhalter, Christin… , February 18, 2021. - 19 S.
In: The journal of biological chemistry, ISSN 1083-351X. 296(2021), Artikel-ID 100433, Seite 1-19
DOI: 10.1016/j.jbc.2021.100433
- Görlacher, Marlen: Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects / Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca… , 7 November 2020. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 25(2020) vom: Dez., Artikel-ID 100673, Seite 1-6
DOI: 10.1016/j.ymgmr.2020.100673
