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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: fobker m. 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.
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: fobker m. JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303607 Free PMC article.
Effect of a Sodium and Calcium DL-β-Hydroxybutyrate Salt in Healthy Adults.
Fischer T, Och U, Klawon I, Och T, Grüneberg M, Fobker M, Bordewick-Dell U, Marquardt T. Fischer T, et al. Among authors: fobker m. J Nutr Metab. 2018 Apr 12;2018:9812806. doi: 10.1155/2018/9812806. eCollection 2018. J Nutr Metab. 2018. PMID: 29850235 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. Among authors: fobker m. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.
129 results