(Q54325796)

27 May 2018

title

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

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27 May 2018

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Tadayasu Togawa

1

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27 May 2018

Takahiro Tsukimura

2

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27 May 2018

Takashi Kodama

3

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27 May 2018

Toshie Tanaka

4

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27 May 2018

Ikuo Kawashima

5

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27 May 2018

Seiji Saito

6

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27 May 2018

Kazuki Ohno

7

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27 May 2018

Tomoko Fukushige

8

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27 May 2018

Takuro Kanekura

9

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27 May 2018

Atsushi Satomura

10

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27 May 2018

Duk-Hee Kang

11

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27 May 2018

Beom Hee Lee

12

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27 May 2018

Han-Wook Yoo

13

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27 May 2018

Kent Doi

14

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27 May 2018

Eisei Noiri

15

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27 May 2018

Hitoshi Sakuraba

16

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27 May 2018

publication date

18 January 2012

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27 May 2018

Molecular Genetics and Metabolism

published in

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27 May 2018

volume

105

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27 May 2018

issue

4

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27 May 2018

page(s)

615-620

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27 May 2018

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

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Significance of screening for Fabry disease among male dialysis patients

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Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

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

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

7 January 2021

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

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

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease

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Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease

7 January 2021

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Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine

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7 January 2021

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Calculation of the reaction field due to off-center point multipoles

7 January 2021

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

7 January 2021

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Molecular and structural studies of the GM2 gangliosidosis 0 variant.

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Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

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Structural characterization of mutant alpha-galactosidases causing Fabry disease

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

7 January 2021

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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

7 January 2021

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

7 January 2021

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10.1016/J.YMGME.2012.01.010

7 January 2021

Identifiers

DOI

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27 May 2018

PubMed ID

22305854

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27 May 2018