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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
BACKGROUND: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to assess the impact of genetic newborn screening for S...
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| Published in: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2021
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8011100/ https://ncbi.nlm.nih.gov/pubmed/33789695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01783-8 |
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