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Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: thiel c. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379
Carnosinase-1 Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet.
Pfeffer T, Wetzel C, Kirschner P, Bartosova M, Poth T, Schwab C, Poschet G, Zemva J, Bulkescher R, Damgov I, Thiel C, Garbade SF, Klingbeil K, Peters V, Schmitt CP. Pfeffer T, et al. Among authors: thiel c. Antioxidants (Basel). 2023 Jun 14;12(6):1270. doi: 10.3390/antiox12061270. Antioxidants (Basel). 2023. PMID: 37372000 Free PMC article.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: thiel c. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, Schumann A, Hengst S, Tuncel AT, Fenaille F, Thiel C, Rymen D. Raynor A, et al. Among authors: thiel c. Proteomics Clin Appl. 2024 Mar;18(2):e2300040. doi: 10.1002/prca.202300040. Epub 2023 Oct 24. Proteomics Clin Appl. 2024. PMID: 37876147
A Life Cycle Assessment of Reusable and Disposable Surgical Caps.
Donahue LM, Petit HJ, Thiel CL, Sullivan GA, Gulack BC, Shah AN. Donahue LM, et al. Among authors: thiel cl. J Surg Res. 2024 May 14;299:112-119. doi: 10.1016/j.jss.2024.04.007. Online ahead of print. J Surg Res. 2024. PMID: 38749314
685 results