The skeletal manifestations of the congenital disorders of glycosylation.
about
Metabolic manipulation of glycosylation disorders in humans and animal modelsDiagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeA zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Golgi glycosylation and human inherited diseases.Congenital disorders of glycosylation and intellectual disability.Human diseases associated with form and function of the Golgi complex.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Human immunodeficiency virus type 1 enhancer-binding protein 3 is essential for the expression of asparagine-linked glycosylation 2 in the regulation of osteoblast and chondrocyte differentiationImmunological aspects of congenital disorders of glycosylation (CDG): a review.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.Glycans modify mesenchymal stem cell differentiation to impact the function of resulting osteoblasts.A human case of SLC35A3-related skeletal dysplasia.Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
P2860
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P2860
The skeletal manifestations of the congenital disorders of glycosylation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 06 May 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The skeletal manifestations of the congenital disorders of glycosylation.
@en
The skeletal manifestations of the congenital disorders of glycosylation.
@nl
type
label
The skeletal manifestations of the congenital disorders of glycosylation.
@en
The skeletal manifestations of the congenital disorders of glycosylation.
@nl
prefLabel
The skeletal manifestations of the congenital disorders of glycosylation.
@en
The skeletal manifestations of the congenital disorders of glycosylation.
@nl
P2093
P2860
P1433
P1476
The skeletal manifestations of the congenital disorders of glycosylation
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2008.01015.X
P577
2008-05-06T00:00:00Z