Fabry disease: Biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution-Reference-Cited by-同舟云学术

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

Published:2012-04 Issue:4 Volume:105 Page:615-620
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Togawa Tadayasu,Tsukimura Takahiro,Kodama Takashi,Tanaka Toshie,Kawashima Ikuo,Saito Seiji,Ohno Kazuki,Fukushige Tomoko,Kanekura Takuro,Satomura Atsushi,Kang Duk-Hee,Lee Beom Hee,Yoo Han-Wook,Doi Kent,Noiri Eisei,Sakuraba Hitoshi

Publisher

Elsevier BV

Subject

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

Reference30 articles.

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

2. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment;Weidemann;Circulation,2009

3. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting;Schiffmann;Nephrol. Dial. Transplant.,2006

4. High incidence of later-onset Fabry disease revealed by newborn screening;Spada;Am. J. Hum. Genet.,2006

5. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A);Hwu;Hum. Mutat.,2009

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