학술논문
High incidence of later-onset fabry disease revealed by newborn screening
Document Type
Clinical report
Author
Source
American Journal of Human Genetics. July, 2006, Vol. 79 Issue 1, p31, 10 p.
Subject
Language
English
ISSN
0002-9297
Abstract
Newborn screening by assaying the alpha-Gal A activity in blood spots from 37,104 consecutive Italian male neonates to determine the disease incidence is undertaken. Molecular modeling and in vitro overexpression of the missense mutations demonstrates structures and residual activities, which were rescued/enhanced by an alpha-Gal A-specific pharmalogic chaperone, consistent with mutations that cause the later-onset phenotype.