244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
peer reviewed ; •Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients •NBS is complementary of carriers 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 •We propose a strategy to launch an evidence-based approach for these patients
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Dokumenttyp: | journal article |
Erscheinungsdatum: | 2020 |
Verlag/Hrsg.: |
Elsevier
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Schlagwörter: | Newborn -Screening / Spinal Muscular atrophy / pre-symptomatic / Human health sciences / Neurology / Sciences de la santé humaine / Neurologie |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26812177 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://orbi.uliege.be/handle/2268/242772 |