Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease-Reference-Cited by-同舟云学术

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

Published:2017-02-02 Issue:6 Volume:26 Page:1182-1192
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Shen Jin-Song,Arning Erland,West Michael L.,Day Taniqua S.,Chen Shuyuan,Meng Xing-Li,Forni Sabrina,McNeill Nathan,Goker-Alpan Ozlem,Wang Xuan,Ashcraft Paula,Moore David F.,Cheng Seng H.,Schiffmann Raphael,Bottiglieri Teodoro

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/6/1182/11195281/ddx032.pdf

Reference41 articles.

1. Enzymatic defect in Fabry disease: ceramide trihexosidase deficiency;N. Engl. J. Med,1967

2. Fabry disease;Pharmacol. Ther,2009

3. Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease;Mol. Med,2015

4. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat;N. Engl. J. Med,2016

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