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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 residual activity of b …
Congenital disorder of glycosylation (CDG) type Ia is a multisystem disorder that occurs due to mutations in the …
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
Taday R, Grüneberg M, DuChesne I, Reunert J, Marquardt T. Taday R, et al. Orphanet J Rare Dis. 2020 Sep 22;15(1):258. doi: 10.1186/s13023-020-01528-z. Orphanet J Rare Dis. 2020. PMID: 32962735 Free PMC article.
BACKGROUND: PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in P …
BACKGROUND: PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-def …
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379
PMM2-CDG is the most common defect among the congenital disorders of glycosylation. ...In this study we discuss the impact of metabolite abnormalities on the phenotype of PMM2-CDG. In addition, based on our data we propose new and easy-to-implem …
PMM2-CDG is the most common defect among the congenital disorders of glycosylation. ...In this study we discuss …
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 …
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.
Doroftei B, Nemtanu L, Ilie OD, Simionescu G, Ivanov I, Anton E, Puiu M, Maftei R. Doroftei B, et al. Genes (Basel). 2020 Jun 25;11(6):697. doi: 10.3390/genes11060697. Genes (Basel). 2020. PMID: 32630370 Free PMC article.
Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Resul …
Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all …
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Masunaga Y, et al. Endocr J. 2021 May 28;68(5):605-611. doi: 10.1507/endocrj.EJ20-0706. Epub 2021 Mar 11. Endocr J. 2021. PMID: 33583911 Free article.
Primary ovarian insufficiency (POI) is a highly heterogeneous condition, and its underlying causes remain to be clarified in a large fraction of patients. Congenital disorders of glycosylation (CDG) are multisystem diseases caused by mutations of a num …
Primary ovarian insufficiency (POI) is a highly heterogeneous condition, and its underlying causes remain to be clarified in a large fractio …