Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level (Q84648384)

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9 February 2020

title

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level (English)

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9 February 2020

7

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9 February 2020

author name string

Sayuri Mitobe

1

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9 February 2020

Tadayasu Togawa

2

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9 February 2020

Takahiro Tsukimura

3

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9 February 2020

Takashi Kodama

4

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9 February 2020

Toshie Tanaka

5

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9 February 2020

Kent Doi

6

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9 February 2020

Yasuhiro Akai

8

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9 February 2020

Yoshihiko Saito

9

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9 February 2020

Makoto Yoshino

10

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9 February 2020

Toshihiro Takenaka

11

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9 February 2020

Seiji Saito

12

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9 February 2020

Kazuki Ohno

13

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9 February 2020

Hitoshi Sakuraba

14

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publication date

14 July 2012

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Molecular Genetics and Metabolism

9 February 2020

published in

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9 February 2020

volume

107

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9 February 2020

issue

3

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9 February 2020

page(s)

623-626

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Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

9 February 2020

cites work

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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

7 January 2021

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An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring

7 January 2021

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HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

7 January 2021

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The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

7 January 2021

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease

7 January 2021

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Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

7 January 2021

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Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.07.003

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

7 January 2021

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

7 January 2021

1 reference

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10.1016/J.YMGME.2012.07.003

7 January 2021

Identifiers

DOI

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9 February 2020

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