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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Detalles Bibliográficos
Autores principales: Gragnaniello, Vincenza, Burlina, Alessandro P, Polo, Giulia, Giuliani, Antonella, Salviati, Leonardo, Duro, Giovanni, Cazzorla, Chiara, Rubert, Laura, Maines, Evelina, Germain, Dominique P, Burlina, Alberto B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301924/
https://www.ncbi.nlm.nih.gov/pubmed/34199132
http://dx.doi.org/10.3390/biom11070951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301924/
https://www.ncbi.nlm.nih.gov/pubmed/34199132
http://dx.doi.org/10.3390/biom11070951

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