(Q84371930)

English

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients

scientific article published on 14 June 2012

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scholarly article

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5 February 2020

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients (English)

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5 February 2020

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5 February 2020

Kousuke Negishi

4

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5 February 2020

author name string

Kent Doi

1

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5 February 2020

Tomoko Ishizu

3

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5 February 2020

Yoshifumi Suzuki

5

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5 February 2020

Yoshifumi Hamasaki

6

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5 February 2020

Kenjiro Honda

7

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5 February 2020

Toshiro Fujita

8

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5 February 2020

Takahiro Tsukimura

9

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5 February 2020

Tadayasu Togawa

10

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5 February 2020

Seiji Saito

11

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5 February 2020

Hitoshi Sakuraba

12

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5 February 2020

publication date

14 June 2012

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5 February 2020

Journal of Human Genetics

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57

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5 February 2020

9

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5 February 2020

575-579

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5 February 2020

https://scigraph.springernature.com/pub.10.1038/jhg.2012.68

0 references

Enzymatic Defect in Fabry's Disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Agalsidase alfa and kidney dysfunction in Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for Fabry disease in high-risk populations: a systematic review.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Significance of screening for Fabry disease among male dialysis patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural characterization of mutant alpha-galactosidases causing Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.68

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2012.68

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22695894%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22695894%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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