Article
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Molecular genetics & genomic medicine - 1 Nov 2020
Sawada Takaaki, Kido Jun, Sugawara Keishin, Matsumoto Shirou, Takada Fumio, Tsuboi Kazuya, Ohtake Akira, Endo Fumio, Nakamura Kimitoshi
Abstract excerpt
BACKGROUND: In Japan, newborn and high-risk screening for Fabry disease (FD), an inherited X-linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD-associated variants were detected. In high-risk screening, 18,235 individuals who had symptoms and/or a family history...
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