Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (Q38831815)

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25 February 2020

title

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease (English)

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25 February 2020

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7

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author name string

Jan Lukas

1

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25 February 2020

Simone Scalia

2

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25 February 2020

Sabrina Eichler

3

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25 February 2020

Anne-Marie Pockrandt

4

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25 February 2020

Nicole Dehn

5

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25 February 2020

Claudia Cozma

6

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25 February 2020

Arndt Rolfs

8

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publication date

27 October 2015

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25 February 2020

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25 February 2020

volume

37

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25 February 2020

page(s)

43-51

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issue

1

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A method and server for predicting damaging missense mutations

25 February 2020

cites work

1 reference

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Effect of genetic modifiers on cerebral lesions in Fabry disease.

21 January 2018

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

21 January 2018

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

21 January 2018

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Does geographical location influence the phenotype of Fabry disease in women in Europe?

21 January 2018

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Genetic screening of Fabry patients with EcoTILLING and HRM technology

21 January 2018

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

21 January 2018

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Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

21 January 2018

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Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

21 January 2018

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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

21 January 2018

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Clinical presentation in female patients with Fabry disease

21 January 2018

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The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

21 January 2018

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

21 January 2018

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

21 January 2018

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Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

21 January 2018

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

21 January 2018

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The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

21 January 2018

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Newborn screening for lysosomal storage disorders in hungary.

21 January 2018

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

21 January 2018

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21 January 2018

1 reference

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

21 January 2018

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22910

7 January 2021

Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22910

1 reference

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25 February 2020

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