Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts (Q28118284)

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Language	Label	Description	Also known as
English	Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts	scientific journal article

Statements

scholarly article

1 reference

4 January 2017

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts (English)

1 reference

4 January 2017

Glycogen synthase 1

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GOA release 2020-03-11

glycogen (starch) synthase activity

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GOA release 2020-03-11

glycogen metabolic process

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based on heuristic

inferred from title

author name string

Jessie M. Cameron

1

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4 January 2017

Valeriy Levandovskiy

2

1 reference

4 January 2017

Nevena MacKay

3

1 reference

4 January 2017

Rucha Utgikar

4

1 reference

4 January 2017

Cameron Ackerley

5

1 reference

4 January 2017

David Chiasson

6

1 reference

4 January 2017

William Halliday

7

1 reference

4 January 2017

Julian Raiman

8

1 reference

4 January 2017

Brian H. Robinson

9

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4 January 2017

publication date

1 December 2009

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4 January 2017

Molecular Genetics and Metabolism

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4 January 2017

98

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4 January 2017

4

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4 January 2017

378–382

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4 January 2017

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Quantitation of muscle glycogen synthesis in normal subjects and subjects with non-insulin-dependent diabetes by 13C nuclear magnetic resonance spectroscopy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

The incidence of congenital heart disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Hepatic glycogen synthetase deficiency not expressed in cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Abnormal cardiac development in the absence of heart glycogen

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.012

7 January 2021

Identifiers

10.1016/J.YMGME.2009.07.012

0 references

1 reference

4 January 2017

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