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Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy
Spinal muscular atrophy 5q (SMA5q) is one of the most severe and common genetic diseases. In the natural course, the disease leads to premature death (in acute forms) or severe motor disability (in chronic forms). As the genetic basis of SMA is very homogenous, the diagnostics are based entirely on...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7751307/ https://www.ncbi.nlm.nih.gov/pubmed/33364872 http://dx.doi.org/10.2147/DNND.S246907 |