(Q36867125)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant (English)

1 reference

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3 April 2020

1 reference

7

1 reference

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3 April 2020

Johannes Krämer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

12

Stefan-Martin Brand

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Malte Lenders

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Frank Weidemann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Christine Kurschat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Sima Canaan-Kühl

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Thomas Duning

5

1 reference

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3 April 2020

Jörg Stypmann

6

1 reference

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3 April 2020

Stefanie Reiermann

8

1 reference

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3 April 2020

Daniela Blaschke

10

1 reference

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3 April 2020

Christoph Wanner

11

1 reference

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3 April 2020

Eva Brand

13

1 reference

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3 April 2020

publication date

4 May 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

3 April 2020

published in

1 reference

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3 April 2020

volume

11

1 reference

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3 April 2020

issue

1

1 reference

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3 April 2020

page(s)

54

1 reference

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describes a project that uses

3 April 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4855861/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-016-0441-z

0 references

cites work

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>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=4855861

Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients 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=4855861

Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

When should cardiologists suspect Anderson-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=4855861

A new equation to estimate glomerular filtration rate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Classification of stroke subtypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Screening for pharmacological chaperones in 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=4855861

Fabry disease in childhood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Fabry disease defined: baseline clinical manifestations of 366 patients in 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=4855861

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Electrocardiographic and vectorcardiographic abnormalities in Fabry's 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=4855861

X-chromosome inactivation in female patients with 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=4855861

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

A validated disease severity scoring system for Fabry disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4855861

Gene Mutations Versus Clinically Relevant Phenotypes

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-016-0441-Z

21 January 2018

1 reference

12 December 2020

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

1 reference

12 December 2020

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

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

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

10.1186/S13023-016-0441-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27142856%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference