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

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Arseni Markoff

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Ed Kolodny

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Hermann Mascher

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Karl J Lackner

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Wolfgang Meyer

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Phillip Wree

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Viatcheslav Saviouk

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Arndt Rolfs

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

2013

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e1003632

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start time

1 August 2013

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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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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12 December 2020

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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12 December 2020

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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12 December 2020

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

1 reference

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PubMed publication ID

23935525

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