Zobrazeno 1 - 2
of 2
pro vyhledávání: '"May-Chin Chao"'
Autor:
May-Chin Chao, Shu-Chuan Chiang, Robert J. Desnick, Hui-Ying Yeh, Shio Jean Lin, Wuh-Liang Hwu, Robert Dobrovolny, Yin-Hsiu Chien, Ai-Chu Huang, Li-Wen Hsu, Ni-Chung Lee, Teruo Kitagawa
Publikováno v:
Human Mutation. 30:1397-1405
Fabry disease (alpha-galactosidase A (alpha-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism. Because optimal therapeutic outcomes depend on early intervention, a pilot program was designed to assess newborn screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6330399dd6a5de25ffe0ea1d725a758b
https://doi.org/10.1002/humu.21074
https://doi.org/10.1002/humu.21074
Publikováno v:
Molecular Genetics and Metabolism. 101:90-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::007e62c75f8d0c9541c527e73544066c
https://doi.org/10.1016/j.ymgme.2010.05.016
https://doi.org/10.1016/j.ymgme.2010.05.016