Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy

• Главные авторы: Katy Cooper (Автор), Gamze Nalbant (Автор), Anthea Sutton (Автор), Sue Harnan (Автор), Praveen Thokala (Автор), Jim Chilcott (Автор), Alisdair McNeill (Автор), Alice Bessey (Автор)
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• Опубликовано: MDPI AG, 2024-07-01T00:00:00Z.
• Предметы: article
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Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newb...