Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
about
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1AA novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharideGPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.Carbohydrate deficient glycoprotein (CDG) syndrome type ICarbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic diseaseScreening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Congenital disorders of glycosylation: a review.CDG nomenclature: time for a change!Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.The analysis of carbohydrate-deficient transferrin, marker of chronic alcoholism, using capillary electrophoresis.Disialotransferrin developmental deficiency syndromeOlivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.5-thiomannosides block the biosynthesis of dolichol-linked oligosaccharides and mimic class I congenital disorders of glycosylationThe 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?Congenital protein hypoglycosylation diseases.Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.Glycoprotein folding and quality-control mechanisms in protein-folding diseasesCongenital disorders of glycosylation (CDG): it's (nearly) all in it!A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationBiological roles of glycans.Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.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.COG5-CDG with a Mild Neurohepatic Presentation.How to find and diagnose a CDG due to defective N-glycosylation.Diseases of glycosylationDefective PMM2 causes PMM2-CDG (CDG-1a)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.
P2860
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P2860
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年学术文章
@wuu
1984年学术文章
@zh
1984年学术文章
@zh-cn
1984年学术文章
@zh-hans
1984年学术文章
@zh-my
1984年学术文章
@zh-sg
1984年學術文章
@yue
1984年學術文章
@zh-hant
name
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@en
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@nl
type
label
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@en
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@nl
prefLabel
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@en
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@nl
P2093
P1433
P1476
Sialic acid-deficient serum an ...... y recognized genetic syndrome.
@en
P2093
C van der Heul
E Eggermont
H G van Eijk
P304
P356
10.1016/0009-8981(84)90059-7
P577
1984-12-01T00:00:00Z