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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
PURPOSE: Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended therapy are thought to improve the neurological out...
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| Publicado no: | Genet Med |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group US
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7790745/ https://ncbi.nlm.nih.gov/pubmed/32981931 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00971-4 |
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