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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: okun jg. 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
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: okun jg. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Among authors: okun jg. Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33288448 Free PMC article.
Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus.
Sauer SW, Opp S, Mahringer A, Kamiński MM, Thiel C, Okun JG, Fricker G, Morath MA, Kölker S. Sauer SW, et al. Among authors: okun jg. Biochim Biophys Acta. 2010 Jun;1802(6):552-60. doi: 10.1016/j.bbadis.2010.03.003. Epub 2010 Mar 17. Biochim Biophys Acta. 2010. PMID: 20302929 Free article.
Significance of the Extent of Intestinal Resection on the Outcome of a Short-bowel Syndrome in a Porcine Model.
Frongia G, Nickkholgh A, Hafezi M MR, Arvin J, Saffari A, Golriz M, Aydin E, Weih S, Kessler M, Emami G, Garoussi C, Okun JG, Schmidt K, Thiel C, Brune M, Günther P, Holland-Cunz S, Mehrabi A. Frongia G, et al. Among authors: okun jg. J Invest Surg. 2016;29(1):57-65. doi: 10.3109/08941939.2015.1057304. Epub 2015 Sep 16. J Invest Surg. 2016. PMID: 26375577
159 results