(Q48164417)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

glycogen metabolic process

5 January 2020

main subject

glycogen storage disease

1 reference

based on heuristic

inferred from title

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Ching-Wan Lam

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Yuen-Yu Lam

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Tak-Wai Wong

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Tony Wing-Lai Mak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Wai-Ching Fung

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Kwok-Chiu Chan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Che-Shun Ho

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Sui-Fan Tong

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 November 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

3

1 reference

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5 January 2020

page(s)

271-275

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

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

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Debranching enzyme from rabbit skeletal muscle. Purification, properties and physiological role

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

The Subgroups of Type III Glycogenosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

The CpG dinucleotide and human genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.017

10.1016/J.YMGME.2004.07.017

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15542399%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference