Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG (Q26824332)

congenital disorder of glycosylation It

main subject

1 reference

Eva Morava

1

1 reference

Crossref

language of work or name

1 reference

August 2014

1 reference

Molecular Genetics and Metabolism

published in

1 reference

volume

112

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page(s)

275-9

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issue

4

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A case of adult onset phosphoglucomutase deficiency

cites work

1 reference

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Congenital disorders of glycosylation: new defects and still counting

7 April 2017

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Multiple phenotypes in phosphoglucomutase 1 deficiency

28 September 2017

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New insights in the field of muscle glycogenoses

28 September 2017

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Congenital disorders of glycosylation: sweet news

28 September 2017

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Phosphoglucomutase; mechanism of action

28 September 2017

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Interference of maltose, icodextrin, galactose, or xylose with some blood glucose monitoring systems

28 September 2017

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Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

28 September 2017

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A KINETIC STUDY OF THE PHOSPHOGLUCOMUTASE PATHWAY

28 September 2017

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Skeletal muscle glycogenosis: an investigation of two dissimilar cases

28 September 2017

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The occurrence of a group transfer involving enzyme (phosphoglucomutase) and substrate

28 September 2017

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Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels

28 September 2017

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Phosphorus nuclear magnetic resonance studies of phosphoglucomutase and its metal ion complexes

28 September 2017

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Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency

28 September 2017

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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

28 November 2018

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

28 November 2018

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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

28 November 2018

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Muscle glycogenosis due to phosphoglucomutase 1 deficiency

28 November 2018

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FSGS permeability factor-associated nephrotic syndrome: remission after oral galactose therapy

28 November 2018

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Effect of prolonged galactose consumption on galactose tolerance in young healthy humans

28 November 2018

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A comparative analysis between the effects of galactose and glucose supplementation on endurance performance

7 January 2021

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