(Q36611898)

15 August 2017

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease (English)

1 reference

15 August 2017

1 reference

Markus Niemann

1

1 reference

15 August 2017

Arndt Rolfs

2

1 reference

15 August 2017

Anne Giese

3

1 reference

15 August 2017

Hermann Mascher

4

1 reference

15 August 2017

Frank Breunig

5

1 reference

15 August 2017

Georg Ertl

6

1 reference

15 August 2017

Christoph Wanner

7

1 reference

15 August 2017

Frank Weidemann

8

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15 August 2017

1 July 2012

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Journal of Inherited Metabolic Disorders Reports

15 August 2017

1 reference

15 August 2017

7

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15 August 2017

99-102

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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

Fabry or not Fabry--a question of ascertainment

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573177

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

20 September 2018

1 reference

12 December 2020

1 reference

12 December 2020

Screening for Fabry disease using genetic testing

1 reference

12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

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

Identifiers

DOI

10.1007/8904_2012_154

1 reference

15 August 2017

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15 August 2017

1 reference