A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation
about
Human RFT1 deficiency leads to a disorder of N-linked glycosylationALG8-CDG: novel patients and review of the literature.Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation processThe congenital disorders of glycosylation: a multifaceted group of syndromes.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Demonstration of an oligosaccharide-diphosphodolichol diphosphatase activity whose subcellular localization is different than those of dolichyl-phosphate-dependent enzymes of the dolichol cycleA new case of ALG8 deficiency (CDG Ih).Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.Generation and degradation of free asparagine-linked glycans.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.Defective ALG8 causes ALG8-CDG (CDG-1h)Oral D-galactose supplementation in PGM1-CDG.Defective ALG8 does not add glucose to the N-glycan precursor
P2860
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P2860
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@ast
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en-gb
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@nl
type
label
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@ast
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en-gb
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@nl
prefLabel
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@ast
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en-gb
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@nl
P2093
P2860
P50
P921
P356
P1476
A deficiency in dolichyl-P-glu ...... tal disorders of glycosylation
@en
P2093
Celine Peletan
Christophe Delenda
Geneviève Durand
Julia Dancourt
Olivier Danos
Rafael Oriol
Sandrine Vuillaumier-Barrot
Stuart E H Moore
Stéphanie Bucher
Thierry Dupré
P2860
P304
P356
10.1074/JBC.M211950200
P407
P577
2003-03-14T00:00:00Z