High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
Abstract
The classic phenotype of Fabry disease, X-linked alpha -galactosidase A (alpha -Gal A) deficiency, has an estimated incidence of approximately 1 in 50,000 males. The recent recognition of later-onset variants suggested that this treatable lysosomal disease is more frequent. To determine the disease incidence, we undertook newborn screening by assaying the alpha-Gal A activity in blood spots from 37,104 consecutive Italian male neonates....
Paper Details
Title
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
Published Date
Jul 1, 2006
Volume
79
Issue
1
Pages
31 - 40
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