Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy (Q24564669)

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M Hasilik

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G Alton

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C Körner

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M Schiebe-Sukumar

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H G Koch

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K P Zimmer

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R Wu

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E Harms

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K Reiter

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K von Figura

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H H Freeze

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H K Harms

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T Marquardt

Journal of Clinical Investigation

14

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language of work or name

English

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publication date

1 April 1998

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published in

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volume

101

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page(s)

1414-20

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issue

7

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cites work

The x-ray crystal structure of phosphomannose isomerase from Candida albicans at 1.7 angstrom resolution

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Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

24 March 2017

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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

24 March 2017

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Human fibroblasts prefer mannose over glucose as a source of mannose for N-glycosylation. Evidence for the functional importance of transported mannose

24 March 2017

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Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

27 September 2017

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

27 September 2017

1 reference

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Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

27 September 2017

1 reference

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Enzymes of mannose metabolism in murine and human lymphocytic leukaemia

27 September 2017

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A novel Saccharomyces cerevisiae secretory mutant possesses a thermolabile phosphomannose isomerase

27 September 2017

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

27 September 2017

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Mechanism of mannose toxicity

30 May 2018

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Phosphomannose isomerase from Saccharomyces cerevisiae contains two inhibitory metal ion binding sites.

30 May 2018

1 reference

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Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I

28 November 2018

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12 December 2020

Enzymatic assay of D-mannose in serum

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12 December 2020

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type II

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12 December 2020

Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene

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12 December 2020

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

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

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12 December 2020