about
TMEM165 deficiency causes a congenital disorder of glycosylationSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderDe Barsy syndrome and ATP6V0A2-CDGWrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Evolutionary history and functional diversification of phosphomannomutase genes.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Insights into complexity of congenital disorders of glycosylation.The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Life with too much polyprenol: polyprenol reductase deficiency.The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporterTwo Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.Understanding human glycosylation disorders: biochemistry leads the charge.From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsGlobal serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.Mouse models for congenital disorders of glycosylation.Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Golgi glycosylation and human inherited diseases.Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Congenital disorders of glycosylation: new defects and still counting.N-glycoprotein macroheterogeneity: biological implications and proteomic characterization.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationImmunological aspects of congenital disorders of glycosylation (CDG): a review.What is new in CDG?A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease.TMEM165 Deficiency: Postnatal Changes in Glycosylation.Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.COG5-CDG with a Mild Neurohepatic Presentation.PIGO deficiency: palmoplantar keratoderma and novel mutationsSocio-emotional Problems in Children with CDG.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
CDG nomenclature: time for a change!
@ast
CDG nomenclature: time for a change!
@en
type
label
CDG nomenclature: time for a change!
@ast
CDG nomenclature: time for a change!
@en
prefLabel
CDG nomenclature: time for a change!
@ast
CDG nomenclature: time for a change!
@en
P2093
P2860
P1476
CDG nomenclature: time for a change!
@en
P2093
Gert Matthijs
Jaak Jaeken
Thierry Hennet
P2860
P304
P356
10.1016/J.BBADIS.2009.08.005
P407
P577
2009-09-01T00:00:00Z