Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for FD by α-galactosidase A activity and globotriaosyls...

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Detalhes bibliográficos
Principais autores: Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina
Formato: Artigo
Idioma:English
Publicado em: MDPI AG 2021-06-01
coleção:Biomolecules
Assuntos:
Fabry disease
newborn screening
variant interpretation
second tier test
tandem mass spectrometry
lyso-Gb<sub>3</sub>
Acesso em linha:https://www.mdpi.com/2218-273X/11/7/951

Internet

https://www.mdpi.com/2218-273X/11/7/951

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