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Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L, Grüneberg M, Reunert J, Rust S, Park J, Westermann C, Wada Y, Schwartz O, Marquardt T. Kemme L, et al. Among authors: reunert j. JIMD Rep. 2021 Mar 20;60(1):42-55. doi: 10.1002/jmd2.12213. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258140 Free PMC article.
TMEM165 Deficiency: Postnatal Changes in Glycosylation.
Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T. Schulte Althoff S, et al. Among authors: reunert j. JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238249 Free PMC article.
News on Clinical Details and Treatment in PGM1-CDG.
Schrapers E, Tegtmeyer LC, Simic-Schleicher G, Debus V, Reunert J, Balbach S, Klingel K, Du Chesne I, Seelhöfer A, Fobker M, Marquardt T, Rust S. Schrapers E, et al. Among authors: reunert j. JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303607 Free PMC article.
Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
Jasper L, Scarcia P, Rust S, Reunert J, Palmieri F, Marquardt T. Jasper L, et al. Among authors: reunert j. Int J Mol Sci. 2021 Sep 14;22(18):9929. doi: 10.3390/ijms22189929. Int J Mol Sci. 2021. PMID: 34576089 Free PMC article.
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH, Mealer RG, Elias AF, Hoffmann S, Grüneberg M, Biskup S, Fobker M, Haven J, Mangels U, Reunert J, Rust S, Schoof J, Schwanke C, Smoller JW, Cummings RD, Marquardt T. Park JH, et al. Among authors: reunert j. J Inherit Metab Dis. 2020 Nov;43(6):1370-1381. doi: 10.1002/jimd.12306. Epub 2020 Sep 14. J Inherit Metab Dis. 2020. PMID: 32852845 Free PMC article.
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Reunert J, et al. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.
57 results