CDG 综合征 IIm 型的英文名字是CDG syndrome type IIm。基因解码表明:CDG综合征 IIm型是由基因突变引起的。CDG综合征是一组遗传性代谢疾病,其中包括多种亚型。CDG综合征 IIm型是由于底物转运蛋白基因的突变导致的。这些突变会影响底物转运蛋白的功能,进而导致糖蛋白的异常合成和修饰,从而引起细胞内糖蛋白的异常积累...
Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. Further studies as to the cause of this 'apparently new' CDG, are ongoing. On the basis of our data and a literature ...
Golgi function and dysfunction in the first COG4-deficient CDG type II patient Hum. Mol. Genet., 18 (2009), pp. 3244-3256 CrossrefView in ScopusGoogle Scholar [7] P. Paesold-Burda, C. Maag, H. Troxler, et al. Deficiency in COG5 causes a moderate form of congenital disorders of gl...
The primary defects either impair the formation of the lipid-linked oligosaccharide (LLO) precursor of N-linked glycosylation (CDGs type I – 13 types ; Ia-m) or affect processing of the protein-bound sugar chains (CDGs type II – 8 types ; IIa-h). The clinical spectrum of the different...
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report... J Jaeken,H Schachter,H...
2. Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem....
SLC35A2-先天性糖基化障碍(CDG-IIm)的其他中文名字是先天性糖基化障碍综合征II型M型,英文名字是Congenital disorder of glycosylation type IIm (CDG-IIm)。 与SLC35A2-先天性糖基化障碍(CDG-IIm)基因检测与测序分析相关的项目名称还可能是什么? 与SLC35A2-先天性糖基化障碍(CDG-IIm)基因检测与测序分析相关的...
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G: Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet. 2009, 18: 3244-3256. 10.1093/hmg/ddp262. Article PubMed Central CAS PubMed Google Scho...
11. Tahata, S. et al. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A (2022) ...
Airport type Public Owner Groupe ADP Operator Paris Aeroport Serves Paris metropolitan area Location Roissy-en-France, France Opened 8 March 1974; 50 years ago Hub for Air France Air France Cargo FedEx Express Operating base for Air France Hop easyJet Norse Atlantic Airways ...