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Page 1
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R. Sturiale L, et al. Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16. Glycoconj J. 2019. PMID: 31529350
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Eklund EA, Newell JW, Sun L, Seo NS, Alper G, Willert J, Freeze HH. Eklund EA, et al. Mol Genet Metab. 2005 Jan;84(1):25-31. doi: 10.1016/j.ymgme.2004.09.014. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639192
In this report we describe the first two US patients with congenital disorder of glycosylation type Ig (CDG-Ig). Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tes …
In this report we describe the first two US patients with congenital disorder of glycosylation type Ig …
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupré T, Seta N, Tchernia G, Kościelak J, Delaunay J. Zdebska E, et al. Pediatr Res. 2003 Aug;54(2):224-9. doi: 10.1203/01.PDR.0000072327.55955.F7. Epub 2003 May 7. Pediatr Res. 2003. PMID: 12736397
A description is provided of the clinical presentation in an infant of the recently described congenital disorder of glycosylation type Ig, and the changes affecting glycosylation of red cell membrane band 3, the anion exchanger. ...Band …
A description is provided of the clinical presentation in an infant of the recently described congenital disorder of …
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. Ziburová J, et al. Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1. Am J Med Genet A. 2021. PMID: 34467644 Free PMC article.
Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). ...
Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease cau …