(Q80579419)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

glycogen metabolic process

1 January 2020

main subject

glycogen storage disease

1 reference

based on heuristic

inferred from title

1 reference

Laura Gort

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

M Josep Coll

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Amparo Chabás

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

5 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

183-187

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.011

10.1016/J.YMGME.2007.05.011

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17616415%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference