Frequency of Fabry disease in male and female haemodialysis patients in Spain (Q33528164)

27 July 2017

title

Frequency of Fabry disease in male and female haemodialysis patients in Spain (English)

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27 July 2017

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Paulo Gaspar

1

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author name string

Julio Herrera

2

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Daniel Rodrigues

3

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Sebastián Cerezo

4

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Rodrigo Delgado

5

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Carlos F Andrade

6

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Ramón Forascepi

7

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Juan Macias

8

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Maria D del Pino

9

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Maria D Prados

10

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Pilar R de Alegria

11

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Gerardo Torres

12

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Pedro Vidau

13

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Maria C Sá-Miranda

14

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27 July 2017

publication date

1 February 2010

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27 July 2017

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volume

11

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page(s)

19

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Screening for Fabry disease in high-risk populations: a systematic review.

27 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

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=2837018

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=2837018

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart 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=2837018

Chronic renal failure, dialysis, and renal transplantation in Anderson-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=2837018

Prevalence of lysosomal storage diseases in Portugal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

Prevalence of lysosomal storage disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

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=2837018

Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs 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=2837018

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

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

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-19

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-19

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837018

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

31 October 2018

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

12 December 2020

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

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

A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-11-19

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Dimensions Publication ID

27 July 2017

1000749656

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Fatcat ID

release_2cx3ctdf3bdjrbwccj7x6txmp4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2cx3ctdf3bdjrbwccj7x6txmp4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2837018

1 reference

27 July 2017

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