(Q45058157)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

main subject

glycogen storage disease

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Tara L Ward

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Stephanie J Valberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

David L Adelson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Colette A Abbey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Matthew M Binns

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

number of pages

8

1 reference

inferred from page(s)

published in

Mammalian Genome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

570-577

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15366377%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00335-004-2369-1

1 January 2020

exact match

0 references

cites work

Amylopectinosis in fetal and neonatal Quarter Horses

1 reference

12 December 2020

Glycogen branching enzyme deficiency in quarter horse foals

1 reference

12 December 2020

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

12 December 2020

Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses

1 reference

12 December 2020

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

1 reference

12 December 2020

Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats

1 reference

12 December 2020

A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation

1 reference

12 December 2020

Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse

1 reference

12 December 2020

Further characterization of glycogen from type-IV glycogen-storage disease

1 reference

12 December 2020

Familial cirrhosis of the liver with storage of abnormal glycogen

1 reference

12 December 2020

Polysaccharide (amylopectin-like) storage myopathy histochemical ultrastructural and biochemical studies

1 reference

12 December 2020

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

1 reference

12 December 2020

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

1 reference

12 December 2020

1 reference

12 December 2020

Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast

1 reference

12 December 2020

Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses.

1 reference

12 December 2020

Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family

1 reference

12 December 2020

Severe cardiopathy in branching enzyme deficiency

1 reference

12 December 2020

Juvenile polysaccharidosis with cardioskeletal myopathy

1 reference

12 December 2020

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

1 reference

12 December 2020