(Q24621090)

2

0 references

E Schollen

3

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P Burda

4

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A Stutz

5

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S Grunewald

6

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N M Bailie

7

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M D King

8

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J Jaeken

9

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G Matthijs

10

0 references

E G Berger

11

0 references

M Aebi

12

0 references

T Hennet

Journal of Clinical Investigation

13

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language of work or name

English

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publication date

January 2000

0 references

published in

0 references

volume

105

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issue

2

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page(s)

233-9

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cites work

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A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

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Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

7 April 2017

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DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

7 April 2017

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A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

7 April 2017

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A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe

7 April 2017

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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

7 April 2017

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Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

7 April 2017

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7 April 2017

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

7 April 2017

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

27 September 2017

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Cloning and characterization of the ALG3 gene of Saccharomyces cerevisiae

7 April 2017

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Yeast mutants deficient in protein glycosylation

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Genomic cloning and expression of three murine UDP-galactose: beta-N-acetylglucosamine beta1,3-galactosyltransferase genes

7 April 2017

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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

7 April 2017

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Biological roles of oligosaccharides: all of the theories are correct

7 April 2017

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The dolichol pathway of N-linked glycosylation

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Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor

27 September 2017

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Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

27 September 2017

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

27 September 2017

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Issues in searching molecular sequence databases

27 September 2017

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Three enzymes involved in oligosaccharide-lipid assembly in Chinese hamster ovary cells differ in lipid substrate preference

27 September 2017

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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

27 September 2017

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Carbohydrate-deficient glycoprotein syndrome.

30 May 2018

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Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the Thy-1 expression mutants

30 May 2018

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Abnormal lipid-linked oligosaccharides in class E thy-1-negative mutant lymphomas

30 May 2018

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beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

30 May 2018

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Expression, purification and characterization of GDP-D-mannose 4,6-dehydratase from Escherichia coli.

28 November 2018

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Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

28 November 2018

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

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12 December 2020

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

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12 December 2020

Microheterogeneity of human serum transferrin: a biological phenomenon studied by isoelectric focusing in immobilized pH gradients

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12 December 2020