Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease (Q28535031)

1

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Anne-Katrin Giese

2

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Arseni Markoff

3

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Ed Kolodny

5

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Hermann Mascher

6

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Karl J Lackner

7

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Wolfgang Meyer

8

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Phillip Wree

9

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Viatcheslav Saviouk

10

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Arndt Rolfs

Creative Commons Attribution 4.0 International

11

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language of work or name

English

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publication date

2013

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published in

PLOS Genetics

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volume

9

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page(s)

e1003632

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issue

8

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copyright license

start time

1 August 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

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

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Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

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Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

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Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

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Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

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

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Purification and Properties of Human α-Galactosidases

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12 December 2020

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

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12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

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Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

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12 December 2020

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

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Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

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12 December 2020

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

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12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

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Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

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12 December 2020

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

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12 December 2020

10.1371/JOURNAL.PGEN.1003632

Identifiers

DOI

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2773495

2773495

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1 reference

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