(Q30874048)

20 September 2017

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies (English)

1 reference

20 September 2017

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Miguel Viana Baptista

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Sebastian Mas

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Helena Alves

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

João Paulo Oliveira

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

11

Jesús Egido

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Susana Ferreira

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

António Caldeira-Gomes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Marta Camprecios

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Maria Fenollar-Cortés

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ángel Gallegos-Villalobos

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Diego Garcia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

José Antonio García-Robles

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Eduardo Gutiérrez-Rivas

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

José Antonio Herrero

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Raluca Oancea

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Paloma Péres

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Luis Manuel Salazar-Martín

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jesús Solera-Garcia

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Scott C Garman

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alberto Ortiz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

9 November 2014

1 reference

Molecular Genetics and Metabolism

20 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

248-258

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%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:25468652%20AND%20SRC:MED&resulttype=core&format=json

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Fibrosis: a key feature of Fabry disease with potential therapeutic implications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

An integrated map of genetic variation from 1,092 human genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

A map of human genome variation from population-scale sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Frequency of Fabry disease in male and female haemodialysis patients in Spain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Angiokeratomas of Fabry successfully treated with intense pulsed light

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

The CpG dinucleotide and human genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

New mutations in the GLA gene in Brazilian families with Fabry disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Decreased expression of lysosomal alpha-galactosiase A gene in sporadic Parkinson's disease.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

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.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423738

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

25 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Fabry disease: 20 novel GLA mutations in 35 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Clinical features of Fabry's disease in Australian patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.004

[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease]

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25468652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25468652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2014.11.004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468652%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference