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In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man.
Bortot B, De Martino E, Tesser A, Ura B, Ruozi B, Aloisio M, Biffi S, Addobbati R, Tosi G, Dolcetta D, Severini GM. Bortot B, et al. Int J Mol Med. 2019 Jul;44(1):262-272. doi: 10.3892/ijmm.2019.4199. Epub 2019 May 16. Int J Mol Med. 2019. PMID: 31115488
Congenital disorder of glycosylation (CDG) type Ia is a multisystem disorder that occurs due to mutations in the phosphomannomutase 2 (PMM2) gene, which encodes for an enzyme involved in the N‑glycosylation pathway. ...The glycosylation process
Congenital disorder of glycosylation (CDG) type Ia is a multisystem disorder that occurs due to mutations in the
Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Orphanet J Rare Dis. 2019 Oct 22;14(1):231. doi: 10.1186/s13023-019-1213-3. Orphanet J Rare Dis. 2019. PMID: 31640729 Free PMC article.
BACKGROUND: PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of li …
BACKGROUND: PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is t …
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF. Thiesler CT, et al. Mol Cell Proteomics. 2016 Apr;15(4):1435-52. doi: 10.1074/mcp.M115.054122. Epub 2016 Jan 19. Mol Cell Proteomics. 2016. PMID: 26785728 Free PMC article.
PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting prote …
PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutatio …
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