(Q51471726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

1

1 reference

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29 January 2020

Rita Barone

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Anna Zampetti

11

1 reference

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29 January 2020

Raffaele Manna

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Giancarlo la Marca

3

1 reference

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29 January 2020

Rossella Parini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Claudio Feliciani

10

1 reference

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29 January 2020

Sabrina Giglio

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Maurizio Genuardi

20

1 reference

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29 January 2020

Amelia Morrone

21

1 reference

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29 January 2020

author name string

C Guido

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

S Malvagia

4

1 reference

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29 January 2020

C Cavicchi

5

1 reference

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29 January 2020

A Fiumara

6

1 reference

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29 January 2020

D Antuzzi

9

1 reference

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29 January 2020

C M Della Valle

14

1 reference

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29 January 2020

X Wu

15

1 reference

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29 January 2020

K J Valenzano

16

1 reference

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29 January 2020

R Benjamin

17

1 reference

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29 January 2020

M A Donati

18

1 reference

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29 January 2020

R Guerrini

19

1 reference

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29 January 2020

publication date

25 May 2011

1 reference

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29 January 2020

1 reference

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29 January 2020

volume

81

1 reference

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29 January 2020

issue

3

1 reference

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29 January 2020

page(s)

224-233

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Sequence variations in the first exon of alpha-galactosidase A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Nucleotide sequence of the human alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

10.1111/J.1399-0004.2011.01689.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21517827%20AND%20SRC:MED&resulttype=core&format=json

release_63higrfje5fh3lpsqjydrf6xxq

29 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/63higrfje5fh3lpsqjydrf6xxq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference