A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
about
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationDHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).Update and perspectives on congenital disorders of glycosylation.Ophthalmic manifestations of congenital disorder of glycosylation type 1a.Neurology of inherited glycosylation disorders.Mechanisms of liver injury relevant to pediatric hepatology.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeThe normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.Neonatal congenital microvillus atrophyMacular hypoplasia in congenital disorder of glycosylation type iaA zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.Lymphatic edema in congenital disorders of glycosylation.ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease modelLong-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.A developmental and genetic classification for midbrain-hindbrain malformations.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.The clinical relevance of glycobiology.Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci.Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose.Congenital disorders of glycosylation type Ia as a cause of mirror syndrome.Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
P2860
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P2860
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին 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
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@ast
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@en
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@nl
type
label
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@ast
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@en
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@nl
prefLabel
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@ast
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@en
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@nl
P2093
P2860
P356
P1476
A broad spectrum of clinical p ...... lation I: a series of 26 cases
@en
P2093
B M Gabriel
D Pedespan
E van Schaftingen
G Matthijs
P2860
P356
10.1136/JMG.38.1.14
P407
P577
2001-01-01T00:00:00Z