(Q28485955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23393592%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene (English)

1 reference

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23 February 2020

0 references

4

1 reference

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23 February 2020

Sonja Ständer

5

1 reference

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23 February 2020

7

Stefan-Martin Brand

1 reference

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23 February 2020

author name string

Malte Lenders

1

1 reference

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23 February 2020

Thomas Duning

2

1 reference

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23 February 2020

Michael Schelleckes

3

1 reference

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23 February 2020

Arndt Rolfs

6

1 reference

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23 February 2020

Eva Brand

8

1 reference

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23 February 2020

language of work or name

English

0 references

publication date

5 February 2013

1 reference

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23 February 2020

1 reference

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23 February 2020

volume

8

1 reference

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23 February 2020

issue

2

1 reference

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23 February 2020

page(s)

e55565

1 reference

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Creative Commons Attribution 4.0 International

23 February 2020

copyright license

start time

5 February 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Treat the patient not the lab value

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

2001-2011: A Decade of the LADIS (Leukoaraiosis And DISability) Study: What Have We Learned about White Matter Changes and Small-Vessel Disease?

29 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

29 September 2017

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055565

The genetics of white matter lesions

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Hereditary and non-hereditary microangiopathies in the young. An up-date

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

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=3564750

White matter hyperintensities in mid-adult life

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Progression of cerebral white matter lesions -- clinical and radiological considerations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

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=3564750

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=3564750

Two distinct Gb3/CD77 signaling pathways leading to apoptosis are triggered by anti-Gb3/CD77 mAb and verotoxin-1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Invited article: an MRI-based approach to the diagnosis of white matter disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

Age, hypertension, and lacunar stroke are the major determinants of the severity of age-related white matter changes. The LADIS (Leukoaraiosis and Disability in the Elderly) Study.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055565

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055565

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.PONE.0055565

Cerebral White Matter Lesions and Depressive Symptoms in Elderly Adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055565

Cerebral white matter lesions and cognitive function: the Rotterdam Scan Study.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564750

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

27 November 2018

1 reference

12 December 2020

Structural characterization of mutant alpha-galactosidases causing Fabry disease

1 reference

12 December 2020

Prevalence and subtypes of radiological cerebrovascular disease in late-onset isolated seizures and epilepsy.

1 reference

12 December 2020

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

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

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

[Contribution of genotyping in Fabry's disease]

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

10.1371/JOURNAL.PONE.0055565

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23393592%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

ADS bibcode

2013PLoSO...855565L

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23393592%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23393592%20AND%20SRC:MED&resulttype=core&format=json