Limitations of galactose therapy in phosphoglucomutase 1 deficiency (Q41220043)

28 September 2017

Limitations of galactose therapy in phosphoglucomutase 1 deficiency (English)

1 reference

28 September 2017

Julien H Park

2

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Emile Van Schaftingen

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Emile van Schaftingen

14

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Thorsten Marquardt

16

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Thorsten Marquardt

1 reference

28 September 2017

Kristine Nolting

1

1 reference

28 September 2017

Laura C Tegtmeyer

3

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28 September 2017

Andrea Zühlsdorf

4

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28 September 2017

Marianne Grüneberg

5

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28 September 2017

Stephan Rust

6

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28 September 2017

Janine Reunert

7

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28 September 2017

Ingrid Du Chesne

8

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28 September 2017

Volker Debus

9

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28 September 2017

Eric Schulze-Bahr

10

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28 September 2017

Robert C Baxter

11

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28 September 2017

Yoshinao Wada

12

1 reference

28 September 2017

Christian Thiel

13

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28 September 2017

Ralph Fingerhut

15

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28 September 2017

31 July 2017

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Molecular Genetics and Metabolism Reports

28 September 2017

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28 September 2017

13

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28 September 2017

33-40

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In-silico Modeling of the Functional Role of Reduced Sialylation in Sodium and Potassium Channel Gating of Mouse Ventricular Myocytes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Chronic Uridine Administration Induces Fatty Liver and Pre-Diabetic Conditions in Mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Reference Values for Weight, Height, Head Circumference, and Body Mass Index in Turkish Children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Multiple phenotypes in phosphoglucomutase 1 deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Inhibition of insulin-like growth factor-binding protein-3 signaling through sphingosine kinase-1 sensitizes triple-negative breast cancer cells to EGF receptor blockade.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Life with too much polyprenol: polyprenol reductase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Galactose toxicity in animals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Activity of human pregnancy insulin-like growth factor binding protein-3: determination by reconstituting recombinant complexes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Hydrophilic affinity isolation and MALDI multiple-stage tandem mass spectrometry of glycopeptides for glycoproteomics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Cardiomyopathy in congenital disorders of glycosylation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

News on Clinical Details and Treatment in PGM1-CDG

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Channel sialic acids limit hERG channel activity during the ventricular action potential

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

IGF system in children with congenital disorders of glycosylation.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

Impaired blockade of insulin-like growth factor I (IGF-I)-induced hypoglycemia by IGF binding protein-3 analog with reduced ternary complex-forming ability

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540825

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

19 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2017.07.010

Characterisation of recombinant glycosylation variants of insulin-like growth factor binding protein-3

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2017.07.010

10.1016/J.YMGMR.2017.07.010

7 January 2021

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DOI

1 reference

28 September 2017

1 reference

28 September 2017

1 reference