Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. (Q33624870)

28 July 2017

title

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. (English)

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28 July 2017

Jaeken J

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28 July 2017

Schachter H

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28 July 2017

Carchon H

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28 July 2017

De Cock P

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28 July 2017

Coddeville B

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28 July 2017

Spik G

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28 July 2017

language of work or name

English

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publication date

1 August 1994

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Archives of Disease in Childhood

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

123-127

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Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

28 July 2017

cites work

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The carbohydrate-deficient glycoprotein syndromes: an overview

21 June 2018

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The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

21 June 2018

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Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

21 June 2018

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Primary structure of two sialylated triantennary glycans from human serotransferrin

21 June 2018

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Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides

21 June 2018

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Control of glycoprotein synthesis. Kinetic mechanism, substrate specificity, and inhibition characteristics of UDP-N-acetylglucosamine:alpha-D-mannoside beta 1-2 N-acetylglucosaminyltransferase II from rat liver

21 June 2018

1 reference

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Control of glycoprotein synthesis. Purification of UDP-N-acetylglucosamine:alpha-D-mannoside beta 1-2 N-acetylglucosaminyltransferase II from rat liver

21 June 2018

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High-performance liquid chromatography assays for N-acetylglucosaminyltransferases involved in N- and O-glycan synthesis

21 June 2018

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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

21 June 2018

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The 'yellow brick road' to branched complex N-glycans

21 June 2018

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A new variant of the carbohydrate deficient glycoproteins syndrome

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029941

Control of glycoprotein synthesis: substrate specificity of rat liver UDP-GlcNAc:Man alpha 3R beta 2-N-acetylglucosaminyltransferase I using synthetic substrate analogues

21 June 2018

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Characterization by gas-liquid chromatography-mass spectrometry and proton-magnetic-resonance spectroscopy of pertrimethylsilyl methyl glycosides obtained in the methanolysis of glycoproteins and glycopeptides

21 June 2018

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The structure of the asialo-carbohydrate units of human serotransferrin as proven by 360 MHz proton magnetic resonance spectroscopy

21 June 2018

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Studies on glycoconjugates. LXIV. Complete structure of two carbohydrate units of human serotransferrin

21 June 2018

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type II

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12 December 2020

The microheterogeneity of human transferrins in biological fluids

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12 December 2020

Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II

1 reference

12 December 2020

Presence of fucosylated triantennary, tetraantennary and pentaantennary glycans in transferrin synthesized by the human hepatocarcinoma cell line Hep G2

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12 December 2020

[22] Electrospray ionization mass spectrometry

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12 December 2020

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Identifiers

DOI

10.1136/ADC.71.2.123

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28 July 2017

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28 July 2017

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