Role of the p.E66Q variant of GLA in the progression of chronic kidney disease (Q44491007)

3 December 2017

Role of the p.E66Q variant of GLA in the progression of chronic kidney disease (English)

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3 December 2017

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3 December 2017

Shin Goto

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3 December 2017

Akinori Miyashita

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Hiroki Maruyama

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3 December 2017

Minako Wakasugi

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3 December 2017

Akio Yokoseki

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3 December 2017

Ryozo Kuwano

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3 December 2017

Ichiei Narita

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3 December 2017

language of work or name

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10 April 2014

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Clinical and experimental nephrology

3 December 2017

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225-230

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https://scigraph.springernature.com/pub.10.1007/s10157-014-0969-y

3 December 2017

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cites work

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

Significance of screening for Fabry disease among male dialysis patients

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

Finding the missing heritability of complex diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

Mapping rare and common causal alleles for complex human diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10157-014-0969-Y

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

21 January 2018

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12 December 2020

The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review

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12 December 2020

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

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12 December 2020

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene

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12 December 2020

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.

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12 December 2020

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12 December 2020

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients

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12 December 2020

10.1007/S10157-014-0969-Y

Identifiers

DOI

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3 December 2017

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