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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Biomolecules
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8301924/
https://ncbi.nlm.nih.gov/pubmed/34199132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biom11070951
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge