Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)-Reference-Cited by-同舟云学术

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

Published:2009-10 Issue:10 Volume:30 Page:1397-1405
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hwu Wuh-Liang,Chien Yin-Hsiu,Lee Ni-Chung,Chiang Shu-Chuan,Dobrovolny Robert,Huang Ai-Chu,Yeh Hui-Ying,Chao May-Chin,Lin Shio-Jean,Kitagawa Teruo,Desnick Robert J.,Hsu Li-Wen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21074/fullpdf

Reference32 articles.

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2. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper;Chamoles;Clin Chim Acta,2001

3. Fabry disease in childhood;Desnick;J Pediatr,2004

4. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy;Desnick;Ann Intern Med,2003

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