Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin.
about
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Insights into complexity of congenital disorders of glycosylation.The congenital disorders of glycosylation: a multifaceted group of syndromes.Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly.Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.MAN1B1 deficiency: an unexpected CDG-IICongenital protein hypoglycosylation diseases.COG5-CDG: expanding the clinical spectrum.Monitoring of alcohol markers by capillary electrophoresis.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationAnalysis of genetic variants of transferrin in human serum after desialylation by capillary zone electrophoresis and capillary isoelectric focusing.Monitoring of transferrin isoforms in biological samples by capillary electrophoresis.Determination of genetic transferrin variants in human serum by high-resolution capillary zone electrophoresis(†).How to find and diagnose a CDG due to defective N-glycosylation.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.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Toward standardization of carbohydrate-deficient transferrin (CDT) measurements: I. Analyte definition and proposal of a candidate reference method.Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1
P2860
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P2860
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
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2003年學術文章
@zh-hant
name
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@en
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@nl
type
label
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@en
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@nl
prefLabel
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@en
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@nl
P2093
P1433
P1476
Diagnosis of congenital disord ...... phoresis of serum transferrin.
@en
P2093
Hubert A Carchon
Jaak Jaeken
Jean-Bernard Falmagne
Roland Chevigné
P304
P356
10.1373/CLINCHEM.2003.021568
P407
P577
2003-11-18T00:00:00Z