Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
about
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1Diagnostic criteria and genetics of the PEHO syndromeCarbohydrate 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 diseaseCarbohydrate-deficient glycoprotein syndromes.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.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.Cohen syndrome is associated with major glycosylation defects.The congenital disorders of glycosylation: a multifaceted group of syndromes.Congenital disorders of glycosylation: a review.Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.Pitfalls and drawbacks in screening of congenital disorders of glycosylation.Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Biomolecules and Biomarkers Used in Diagnosis of Alcohol Drinking and in Monitoring Therapeutic Interventions.A sensitive green fluorescent protein biomarker of N-glycosylation site occupancyShould we use carbohydrate deficient transferrin as a marker for alcohol abusers?Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.Glycoprotein folding and quality-control mechanisms in protein-folding diseasesBiological roles of glycans.Diseases of glycosylationCarbohydrate-deficient transferrin in the assessment of harmful alcohol consumption: diagnostic performance and clinical significance.Construction of green fluorescence protein mutant to monitor STT3B-dependent N-glycosylation.Carbohydrate-deficient transferrin assay in pediatrics and pregnancy: expression of results.
P2860
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P2860
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@ast
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@en
type
label
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@ast
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@en
prefLabel
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@ast
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@en
P2860
P356
P1476
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
@en
P2093
P2860
P304
P356
10.1136/ADC.65.1.107
P407
P577
1990-01-01T00:00:00Z