(Q41920726)

14 October 2017

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

1 reference

14 October 2017

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

B E Smid

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

C E M Hollak

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

B J H M Poorthuis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

M A van den Bergh Weerman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

W E M Kok

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

R H Lekanne Deprez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

J Timmermans

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

G E Linthorst

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

5 September 2014

1 reference

14 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

161-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

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

13 June 2020

cites work

1 reference

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

21 January 2018

1 reference

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

21 January 2018

1 reference

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

21 January 2018

1 reference

Hearing threshold levels for an otologically unscreened, non-occupationally noise-exposed population in Sweden.

21 January 2018

1 reference

Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease

21 January 2018

1 reference

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

21 January 2018

1 reference

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

21 January 2018

1 reference

Fabry or not Fabry--a question of ascertainment

21 January 2018

1 reference

Gene Mutations Versus Clinically Relevant Phenotypes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25040344%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference