Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). Issue 7 (2nd July 2004)

• Record Type: Journal Article
• Authors: Schollen, E; Frank, C G; Keldermans, L; Reyntjens, R; Grubenmann, C E; Clayton, P T; Winchester, B G; Smeitink, J; Wevers, R A; Aebi, M; Hennet, T; Matthijs, G
• Is Part Of: Journal of medical genetics. Volume 41:Issue 7(2004)
• Page Start: 550
• Page End: 556
• Publication Date: 2004-07-02
• Subjects: CDG, congenital disorders of glycosylation -- CPY, carboxypeptidase Y -- CST, castanospermine -- ER, endoplasmic reticulum -- LLO, lipid-linked oligosaccharide -- MPI, phosphomannose isomerase -- NLO, N-linked oligosaccharide -- NMD, nonsense-mediated mRNA decay; ALG8 -- CDG-Ih -- congenital disorders of glycosylation -- mutations -- N-glycosylation; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2003.016923
• Languages: English
• ISSNs: 1468-6244