Newborn Screening for Fabry Disease: Current Status of Knowledge

Newborn Screening for Fabry Disease: Current Status of Knowledge

Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthoo...

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Bibliographic Details
Main Authors: Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B. Burlina
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:International Journal of Neonatal Screening
Subjects:
Fabry disease
newborn screening
lysosomal storage disease
digital microfluidics
tandem mass spectrometry
second tier test
Online Access:https://www.mdpi.com/2409-515X/9/2/31

Internet

https://www.mdpi.com/2409-515X/9/2/31

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