Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip-Reference-Cited by-同舟云学术

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

Published:2012-01-31 Issue:3 Volume:33 Page:485-487
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Thiel Christian,Rind Nina,Popovici Diana,Hoffmann Georg F.,Hanson Kristen,Conway Robert L.,Adamski Craig R.,Butler Elizabeth,Scanlon Rhonda,Lambert Marie,Apeshiotis Neophytos,Thiels Charlotte,Matthijs Gert,Körner Christian

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22019/fullpdf

Reference12 articles.

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2. Regulation of the dolichol pathway in human fibroblasts by the endoplasmic reticulum unfolded protein response;Doerrler;Proc Natl Acad Sci USA,1999

3. Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum;Gao;Glycobiology,2004

4. Transitory effects of glucose starvation on the synthesis of dolichol-linked oligosaccharides in mammalian cells;Gershman;J Biol Chem,1981

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2. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation;Molecular Genetics and Metabolism;2024-06

3. Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation;International Journal of Molecular Sciences;2024-01-18

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