(Q85416922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

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

1 reference

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17 February 2020

author name string

Masahisa Kobayashi

1

1 reference

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17 February 2020

Toya Ohashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Takahiro Fukuda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Tomoyoshi Yanagisawa

4

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17 February 2020

Takayuki Inomata

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Takashi Nagaoka

6

1 reference

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17 February 2020

Teruo Kitagawa

7

1 reference

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17 February 2020

Yoshikatsu Eto

8

1 reference

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17 February 2020

Hiroyuki Ida

9

1 reference

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17 February 2020

Eiji Kusano

10

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17 February 2020

publication date

24 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

17 February 2020

published in

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17 February 2020

volume

107

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17 February 2020

page(s)

711-715

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17 February 2020

issue

4

1 reference

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Prevalence of lysosomal storage disorders

17 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

Left ventricular mass in chronic kidney disease and ESRD.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

Frequency of Fabry disease in male and female haemodialysis patients in Spain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.018

10.1016/J.YMGME.2012.10.018

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23146289%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference