Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
about
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)ALG11-CDG: Three novel mutations and further characterization of the phenotype.Glucosamine induces ER stress by disrupting lipid-linked oligosaccharide biosynthesis and N-linked protein glycosylation.Defective ALG11 causes ALG11-CDG (CDG-1p)Defective ALG11 does not transfer Man to the N-glycan precursorPMM2-CDG and sensorineural hearing loss.Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.
P2860
Q27311626-8211BBBC-72AA-403B-A8CC-2F079750907DQ33799091-E11D4A07-5B6D-4920-B530-B8283D0D20B8Q38729322-99B3F1A5-5656-4CB2-833B-27E2E2C86D86Q45316539-CB9955BC-8132-4527-A2BE-72D88A0B27B5Q50289220-61521A71-6326-4A71-AAB4-C42CEA302CD4Q50307397-B1EBA418-A766-47CE-862B-782E268A0749Q51629029-1F413785-D20D-45EA-855B-28A0656E7797
P2860
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@en
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@nl
type
label
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@en
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@nl
prefLabel
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@en
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@nl
P2093
P2860
P356
P1433
P1476
Improved diagnostics lead to i ...... disorder of glycosylation-Ip.
@en
P2093
Charlotte Thiels
Christian Körner
Christian Thiel
Craig R Adamski
Diana Popovici
Elizabeth Butler
Georg F Hoffmann
Gert Matthijs
Kristen Hanson
Marie Lambert
P2860
P304
P356
10.1002/HUMU.22019
P577
2012-01-31T00:00:00Z