Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency
- PMID: 9686827
- DOI: 10.1007/s004310050889
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency
Similar articles
-
Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.Acta Paediatr. 1997 Oct;86(10):1138-40. doi: 10.1111/j.1651-2227.1997.tb14825.x. Acta Paediatr. 1997. PMID: 9350901
-
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.Glycobiology. 1998 Feb;8(2):165-71. doi: 10.1093/glycob/8.2.165. Glycobiology. 1998. PMID: 9451026
-
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.Glycoconj J. 1998 May;15(5):499-505. doi: 10.1023/a:1006939104442. Glycoconj J. 1998. PMID: 9881752
-
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004. Biochim Biophys Acta. 2009. PMID: 19339218 Free PMC article. Review.
-
New and potential strategies for the treatment of PMM2-CDG.Biochim Biophys Acta Gen Subj. 2020 Nov;1864(11):129686. doi: 10.1016/j.bbagen.2020.129686. Epub 2020 Jul 23. Biochim Biophys Acta Gen Subj. 2020. PMID: 32712172 Review.
Cited by
-
Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.J Musculoskelet Neuronal Interact. 2024 Mar 1;24(1):12-21. J Musculoskelet Neuronal Interact. 2024. PMID: 38427364 Free PMC article.
-
Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.Cells. 2023 Sep 19;12(18):2314. doi: 10.3390/cells12182314. Cells. 2023. PMID: 37759536 Free PMC article. Review.
-
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.Mol Genet Metab. 2023 Apr;138(4):107559. doi: 10.1016/j.ymgme.2023.107559. Epub 2023 Mar 17. Mol Genet Metab. 2023. PMID: 36965289
-
Chemical Therapies for Congenital Disorders of Glycosylation.ACS Chem Biol. 2022 Nov 18;17(11):2962-2971. doi: 10.1021/acschembio.1c00601. Epub 2021 Nov 17. ACS Chem Biol. 2022. PMID: 34788024 Free PMC article. Review.
-
Treatment Options in Congenital Disorders of Glycosylation.Front Genet. 2021 Sep 10;12:735348. doi: 10.3389/fgene.2021.735348. eCollection 2021. Front Genet. 2021. PMID: 34567084 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
