(Q74536516)

English

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

scientific article published on 01 April 1998

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

glycogen storage disease

1 reference

based on heuristic

inferred from title

glycogen metabolic process

1 reference

based on heuristic

inferred from title

Eli Hershkovitz

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

R Parvari

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J Shen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Y T Chen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S W Moses

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 April 1998

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

21

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

141-148

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584265%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005343625756

0 references

Muscle glycogenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First trimester diagnosis of glycogen storage disease type II and type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Definitive prenatal diagnosis for type III glycogen storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First trimester prenatal diagnosis of glycogen storage disease type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic traits and diseases in the North African Jewish community

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RFLPs for linkage analysis in families with glycogen storage disease type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuromuscular involvement in glycogen storage disease type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gross cardiac involvement in glycogen storage disease type 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Debrancher deficiency: Neuromuscular disorder in 5 adults

1 reference

https://api.crossref.org/works/10.1023%2FA%3A1005343625756

7 January 2021

based on heuristic

inferred from DOI database lookup

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