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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.
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.
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
Marquardt T, Bzduch V, Hogrebe M, Rust S, Reunert J, Grüneberg M, Park J, Callewaert N, Lachmann R, Wada Y, Engel T. Marquardt T, et al. Among authors: gruneberg m. Mol Genet Metab Rep. 2020 Aug 21;25:100636. doi: 10.1016/j.ymgmr.2020.100636. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32884905 Free PMC article.
41 results