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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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Pubblicato in:Degener Neurol Neuromuscul Dis
Autore principale: Jędrzejowska, Maria
Natura: Artigo
Lingua:Inglês
Pubblicazione: Dove 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7751307/
https://ncbi.nlm.nih.gov/pubmed/33364872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/DNND.S246907
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