Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Deficiency of the Golgi enzyme UDP-Gal:N-acetylglucosamine β-1,4-galactosyltransferase I (β4GalT I) (E.C.2.4.1.38) causes a new congenital disorder of glycosylation (CDG), designated type IId (CDG-IId), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood-clotting defect...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Hanßke, Bengt, Thiel, Christian, Lübke, Torben, Hasilik, Martin, Höning, Stefan, Peters, Verena, Heidemann, Peter H., Hoffmann, Georg F., Berger, Eric G., von Figura, Kurt, Körner, Christian
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Clinical Investigation 2002
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC150909/
https://ncbi.nlm.nih.gov/pubmed/11901181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI14010
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