(Q36081133)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

case report

0 references

title

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Daniel Oder

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Dorothee Vergho

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Christoph Wanner

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

19 July 2016

1 reference

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19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

17

1 reference

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19 March 2020

issue

1

1 reference

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19 March 2020

page(s)

46

1 reference

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https://scigraph.springernature.com/pub.10.1186/s12881-016-0309-z

19 March 2020

exact match

0 references

cites work

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

The Fabry cardiomyopathy - diagnostic approach and current treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Genetics and epigenetics of the X chromosome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

X-inactivation in Fabry disease.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4949769

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

21 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0309-Z

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

21 January 2018

1 reference

12 December 2020

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

1 reference

12 December 2020

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

12 December 2020

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1186/S12881-016-0309-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27431810%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

27431810

1 reference