Author:
Quintana E.,Sturiale L.,Montero R.,Andrade F.,Fernandez C.,Couce M. L.,Barone R.,Aldamiz-Echevarria L.,Ribes A.,Artuch R.,Briones P.
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. Adamowicz M, Ploski R, Rokicki D et al (2007) Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. J Inherit Metab Dis 30:407
2. Colomé C, Ferrer I, Artuch R, Vilaseca A, Pineda M, Briones P (2000) Personal experience with the application of CDT assays to the detection of Congenital Disorders of Glycosylation. Clin Chem Lab Med 38:965–969
3. Comunale MA, Lowman M, Long RE et al (2006) Proteomic analysis of serum associated fucosylated glycoproteins in the development of primary hepatocellular carcinoma. J Proteome Res 5:308–315
4. Jaeken J, Pirard M, Adamowicz M, Pronicka E, Van Schaftingen E (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 40:764–766
5. Jaeken J, Matthijs G, Carchon H, Van Schaftingen E (2001) Defects of N-glycan synthesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); Childs B, Kinzler KW, Vogelstein B (assoc. eds). The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1601–1622
Cited by
31 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献