(Q53469658)

English

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

scientific article published on 27 May 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

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

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

1 reference

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author name string

Beom Hee Lee

1

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Sun Hee Heo

2

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Gu-Hwan Kim

3

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Jung-Young Park

4

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Woo-Shik Kim

5

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Duk-Hee Kang

6

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Kyung Hoon Choe

7

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Won-Ho Kim

8

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Song Hyun Yang

9

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Han-Wook Yoo

10

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

publication date

27 May 2010

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Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

55

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Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

8

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

512-517

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Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

https://scigraph.springernature.com/pub.10.1038/jhg.2010.58

0 references

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Significance of screening for Fabry disease among male dialysis patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Pediatric Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Persistent neuro-inflammation in cerebral palsy: a therapeutic window of opportunity?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

21 January 2018

Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

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.2010.58

7 January 2021

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inferred from DOI database lookup

Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of four novel mutations in five unrelated Korean families with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

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Fast atom bombardment tandem mass spectrometric identification of diacyl, alkylacyl, and alk-1-enylacyl molecular species of glycerophosphoethanolamine in human polymorphonuclear leukocytes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

Renal involvement in Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure-function relationships in alpha-galactosidase A.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

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Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.58

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2010.58

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/20505683

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