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Page 1
Mannose supplementation in PMM2-CDG.
Taday R, Park JH, Grüneberg M, DuChesne I, Reunert J, Marquardt T. Taday R, et al. Among authors: duchesne i. Orphanet J Rare Dis. 2021 Aug 11;16(1):359. doi: 10.1186/s13023-021-01988-x. Orphanet J Rare Dis. 2021. PMID: 34380532 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. JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303607 Free PMC article.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: duchesne i. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.
ALG1-CDG: a new case with early fatal outcome.
Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
Zühlsdorf A, Said M, Seger C, Park JH, Reunert J, Rust S, Wada Y, Grüneberg M, DuChesne I, Marquardt T. Zühlsdorf A, et al. Among authors: duchesne i. Alcohol Alcohol. 2016 Mar;51(2):148-53. doi: 10.1093/alcalc/agv099. Epub 2015 Sep 1. Alcohol Alcohol. 2016. PMID: 26333807
Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
Nolting K, Park JH, Tegtmeyer LC, Zühlsdorf A, Grüneberg M, Rust S, Reunert J, Du Chesne I, Debus V, Schulze-Bahr E, Baxter RC, Wada Y, Thiel C, van Schaftingen E, Fingerhut R, Marquardt T. Nolting K, et al. Mol Genet Metab Rep. 2017 Jul 31;13:33-40. doi: 10.1016/j.ymgmr.2017.07.010. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28794993 Free PMC article.
29 results