Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level-Reference-Cited by-同舟云学术

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

Published:2012-11 Issue:3 Volume:107 Page:623-626
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mitobe Sayuri,Togawa Tadayasu,Tsukimura Takahiro,Kodama Takashi,Tanaka Toshie,Doi Kent,Noiri Eisei,Akai Yasuhiro,Saito Yoshihiko,Yoshino Makoto,Takenaka Toshihiro,Saito Seiji,Ohno Kazuki,Sakuraba Hitoshi

Funder

Health and Labor Science Research (HS)

National Institute of Biomedical Innovation

Japan Society for the Promotion of Science

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. α-Galactosidase A deficiency: Fabry disease;Desnick,2001

2. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease;Schiffmann;Proc. Natl. Acad. Sci. U. S. A.,2000

3. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease;Eng;N. Engl. J. Med.,2001

4. An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring;Rozenfeld;Clin. Chim. Acta,2009

5. HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma;Groener;Clin. Chem.,2007

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