(Q51071566)

http://europepmc.org/abstract/MED/25468650

28 March 2018

title

Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts. (English)

1 reference

http://europepmc.org/abstract/MED/25468650

28 March 2018

author

Doug A Brooks

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Peter J Meikle

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Maria Fuller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Natalie Mellett

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Leanne K Hein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

12 November 2014

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http://europepmc.org/abstract/MED/25468650

28 March 2018

published in

Molecular Genetics and Metabolism

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

114

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

268-273

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

10 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Function of the two mannose 6-phosphate receptors in lysosomal enzyme transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

The Phosphomannosyl Recognition System for Intracellular and Intercellular Transport of Lysosomal Enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

Multiple forms of iduronate 2-sulphate sulphatase in human tissues and body fluids.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.005

10.1016/J.YMGME.2014.11.005

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468650%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference