Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
about
Galactose toxicity in animalsProteomics reveals N-linked glycoprotein diversity in Caenorhabditis elegans and suggests an atypical translocation mechanism for integral membrane proteins.Secondary disorders of glycosylation in inborn errors of fructose metabolism.Sweet and sour: an update on classic galactosemia.The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expression.N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.Genetic defects in the human glycome.Ovarian function in girls and women with GALT-deficiency galactosemiaFSH isoform pattern in classic galactosemiaLithium induces ER stress and N-glycan modification in galactose-grown Jurkat cells.Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid.Clinical utility gene card for: ALG1 defective congenital disorder of glycosylationTwo Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?A rare galactosemia complication: vitreous hemorrhage.Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblastsPrimary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.Glycosylation diseases: quo vadis?Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.Biomarkers of ovarian function in girls and women with classic galactosemia.Galactosemia, a single gene disorder with epigenetic consequences.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.Clinical utility gene card for: Phosphomannose isomerase deficiency.COG5-CDG with a Mild Neurohepatic Presentation.Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.Clinical utility gene card for: Phosphomannomutase 2 deficiency.Galactose Epimerase Deficiency: Expanding the Phenotype.Serum protein fractionation using supported molecular matrix electrophoresis.A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
P2860
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P2860
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@ast
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@en
type
label
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@ast
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@en
prefLabel
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@ast
Hypoglycosylation with increas ...... ans in untreated galactosemia.
@en
P2093
P50
P356
P1433
P1476
Hypoglycosylation with increas ...... cans in untreated galactosemia
@en
P2093
Agata Fiumara
Giovanni Sorge
Jaak Jaeken
John F O'Brien
Lorenzo Pavone
Luisa Sturiale
Marta Perez
Silvia Tortorelli
P304
P356
10.1093/GLYCOB/CWJ021
P577
2005-07-21T00:00:00Z