Article
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Journal of medical genetics - 1 Jul 2023
Abiusi Emanuela, Vaisfeld Alessandro, Fiori Stefania, Novelli Agnese, Spartano Serena, Faggiano Maria Vittoria, Giovanniello Teresa, Angeloni Antonio, Vento Giovanni, Santoloci Roberta, Gigli Francesca, D'Amico Adele, Costa Simonetta, Porzi Alessia, Panella Mara, Ticci Chiara, Daniotti Marta, Sacchini Michele, Boschi Ilaria, Dani Carlo, Agostiniani Rino, Bertini Enrico, Lanzone Antonio, Lamarca Giancarlo, Genuardi Maurizio, Pane Marika, Donati Maria Alice, Mercuri Eugenio, Tiziano Francesco Danilo
Abstract excerpt
BACKGROUND: Spinal muscular atrophy (SMA) is due to the homozygous absence of SMN1 in around 97% of patients, independent of the severity (classically ranked into types I-III). The high genetic homogeneity, coupled with the excellent results of presymptomatic treatments of patients with each of the three disease-modifying therapies available, makes SMA one of the golden candidates to genetic newborn screening...
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