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Year Number of Results
2014 2
2015 3
2016 2
2017 2
2018 2
2019 3
2020 7
2021 4
2023 1
2024 0

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23 results

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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: gruneberg m. 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.
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. Park JH, et al. Among authors: gruneberg m. Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33312876 Free PMC article.
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.
Klank S, van Stein C, Grüneberg M, Ottolenghi C, Rauwolf KK, Grebe J, Reunert J, Harms E, Marquardt T. Klank S, et al. Among authors: gruneberg m. Pharmaceutics. 2023 Jun 29;15(7):1851. doi: 10.3390/pharmaceutics15071851. Pharmaceutics. 2023. PMID: 37514038 Free PMC article.
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. Among authors: gruneberg m. 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.
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: gruneberg 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.
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: gruneberg m. 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.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T. Park JH, et al. Among authors: gruneberg m. Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182. Brain. 2019. PMID: 31332433 Free PMC article.
23 results