(Q33958813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

glycogen storage disease

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Isabella Fogh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Alessandro Prelle

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Rossella Parini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Nereo Bresolin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Giacomo P Comi

9

1 reference

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10 December 2019

author name string

Melis D

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Fiori L

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Scarlato G

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

3

1 reference

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10 December 2019

page(s)

183-190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

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

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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%2FAJMG.10347

Debrancher deficiency: Neuromuscular disorder in 5 adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Molecular cloning, sequencing, and analysis of the cDNA for rabbit muscle glycogen debranching enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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%2FAJMG.10347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Cardiac involvement in glycogen storage disease type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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%2FAJMG.10347

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10347

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%2FAJMG.10347

21 January 2018

Identifiers

DOI

10.1002/AJMG.10347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977176%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference