Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry-Reference-Cited by-同舟云学术

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

Published:2005-07 Issue:3 Volume:85 Page:196-202
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kitagawa Teruo,Ishige Nobuyuki,Suzuki Ken,Owada Misao,Ohashi Toya,Kobayashi Masahisa,Eto Yoshikatsu,Tanaka Akemi,Mills Kevin,Winchester Bryan,Keutzer Joan

Publisher

Elsevier BV

Subject

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

Reference33 articles.

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

2. Lysosomal storage disease. Report of Clinical Statistics of Japan(2);Owada;Nihon Rinsho,2001

3. Infusion of α-galactosidase A reduces tissue globotriaosyl-ceramide storage in patients with Fabry disease;Schiffmann;Proc. Natl. Acad. Sci. USA,2000

4. Enzyme replacement therapy in Fabry disease: a randomized controlled trial;Schiffmann;J. Am. Med. Assoc.,2001

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

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