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Dangouloff, Tamara; Burghes, Arthur; Tizzano, Eduardo F.; Servais, Laurent; Dangouloff, Tamara; Burghes, Arthur; Bertini, Enrico; Boemer, François; Hiligsmann, Mickaël; Mueller-Felber, Wolfgang; Tiziano, Danilo; Young, Philip; Tizzano, Eduardo F.; Servais, Laurent; Germanenko, Olga; de Lemus, Mencia; Ouillade, Laetitia; Rucinski, Kasper; Stephenson, Kristin; Farwell, Wildon; Gorni, Ksenija; Hoffmann, F.; Hjort, Mikael; Kausar, Imran
Neuromuscular disorders, January 2020, 2020-01-00, 20200101, 2020-01, Volume: 30, Issue: 1Journal Article, Web Resource
•Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients.•NBS is complementary of carrier screening, with different false negatives.•Pilot projects of SMA NBS have started or are planned to start in several countries.•Questions remain on SMN2 quantification and management of patients with 4 copies.•A strategy is proposed to launch an evidence-based approach for these patients.
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