(Q28535031)

1

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Anne-Katrin Giese

2

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Arseni Markoff

3

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Ed Kolodny

5

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Hermann Mascher

6

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Karl J Lackner

7

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Wolfgang Meyer

8

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Phillip Wree

9

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Viatcheslav Saviouk

10

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Arndt Rolfs

Creative Commons Attribution 4.0 International

11

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language of work or name

English

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publication date

2013

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published in

PLOS Genetics

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volume

9

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page(s)

e1003632

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issue

8

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copyright license

start time

1 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Newborn screening for lysosomal storage disorders in hungary.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Fabry disease: a review of current management strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Structure-function relationships in alpha-galactosidase A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

29 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003632

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3731228

Purification and Properties of Human α-Galactosidases

27 November 2018

1 reference

12 December 2020

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

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

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

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

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

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

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

1 reference

12 December 2020

Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

1 reference

12 December 2020

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003632

Identifiers

DOI

1 reference

2773495

2773495

1 reference

1 reference

1 reference