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Mutations in gfpt1 and skiv2l2 cause distinct stage-specific defects in larval melanocyte regeneration in zebrafishIdentification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.Identification and quantification of glycoproteins using ion-pairing normal-phase liquid chromatography and mass spectrometryGlycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)The fine structure of Caenorhabditis elegans N-glycans.A glycomics platform for the analysis of permethylated oligosaccharide alditols.Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphateAbnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.Phylogenomic analysis of UDP glycosyltransferase 1 multigene family in Linum usitatissimum identified genes with varied expression patterns.Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.Golgi post-translational modifications and associated diseases.Genetic defects in the human glycome.Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.Analysis and validation of carbohydrate three-dimensional structures.Congenital disorders of glycosylation: a review.Genome-wide evolutionary conservation of N-glycosylation sitesMannose-6-phosphate regulates destruction of lipid-linked oligosaccharidesThe molecular era of myology.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Translation attenuation by PERK balances ER glycoprotein synthesis with lipid-linked oligosaccharide flux.Characterization of Arabidopsis AtUGT85A and AtGUS gene families and their expression in rapidly dividing tissues.A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.Stimulation of N-linked glycosylation and lipid-linked oligosaccharide synthesis by stress responses in metazoan cells.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.Ophthalmic findings in an infant with phosphomannomutase deficiency.Inherited disorders of the neuromuscular junction: an update.A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.Traffic jams II: an update of diseases of intracellular transport.Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci.Metformin-stimulated mannose transport in dermal fibroblasts.Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus.Mass spectrometric analysis of human transferrin in different body fluids.Congenital disorders of glycosylation: The Saudi experience.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusTotal loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationFrom gestalt to gene: early predictive dysmorphic features of PMM2-CDGComplementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
P921
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Congenital disorders of glycosylation
@ast
Congenital disorders of glycosylation
@en
Congenital disorders of glycosylation
@nl
type
label
Congenital disorders of glycosylation
@ast
Congenital disorders of glycosylation
@en
Congenital disorders of glycosylation
@nl
prefLabel
Congenital disorders of glycosylation
@ast
Congenital disorders of glycosylation
@en
Congenital disorders of glycosylation
@nl
P1476
Congenital disorders of glycosylation
@en
P2093
P304
P356
10.1146/ANNUREV.GENOM.2.1.129
P407
P577
2001-01-01T00:00:00Z