Newborn Screening for Fabry Disease: Current Status of Knowledge

• Main Authors: Vincenza Gragnaniello (Author), Alessandro P. Burlina (Author), Anna Commone (Author), Daniela Gueraldi (Author), Andrea Puma (Author), Elena Porcù (Author), Maria Stornaiuolo (Author), Chiara Cazzorla (Author), Alberto B. Burlina (Author)
• Format: Book
• Published: MDPI AG, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...