(Q36590955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

3

1 reference

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24 February 2020

Kathleen Claes

8

1 reference

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24 February 2020

author name string

W Terryn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

R Vanholder

2

1 reference

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24 February 2020

B P Leroy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

W Van Biesen

5

1 reference

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24 February 2020

G De Schoenmakere

6

1 reference

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24 February 2020

B Wuyts

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

J De Backer

9

1 reference

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24 February 2020

G De Paepe

10

1 reference

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24 February 2020

A Fogo

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

M Praet

12

1 reference

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24 February 2020

B Poppe

13

1 reference

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24 February 2020

publication date

29 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disorders Reports

24 February 2020

published in

1 reference

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24 February 2020

volume

8

1 reference

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24 February 2020

page(s)

101-108

1 reference

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Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

A view on sphingolipids and disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Natural history and treatment of renal involvement in Fabry disease.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Fabry's Disease: Alpha-Galactosidase Deficiency

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

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=3565658

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular 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=3565658

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565658

Enzymatic Defect in Fabry's Disease

20 September 2018

1 reference

12 December 2020

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

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

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

1 reference

12 December 2020

[Renal biopsies in Fabry disease: a multicenter French study]

1 reference

12 December 2020

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2012_167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430526%20AND%20SRC:MED&resulttype=core&format=json