(Q74246546)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

main subject

glycogen storage disease

1 reference

J Shen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H M Liu

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A McConkie-Rosell

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Y T Chen

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

61-64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Preparation and properties of the glycogen-debranching enzyme from rabbit liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Gross cardiac involvement in glycogen storage disease type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

Assignment of the human glycogen debrancher gene to chromosome 1p21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C61%3A%3AAID-PD223%3E3.0.CO%3B2-I

10.1002/(SICI)1097-0223(199801)18:1<61::AID-PD223>3.0.CO;2-I

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9483641%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference