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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Detalles Bibliográficos
Autores principales: Boy, Nikolas, Mengler, Katharina, Heringer-Seifert, Jana, Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790745/
https://www.ncbi.nlm.nih.gov/pubmed/32981931
http://dx.doi.org/10.1038/s41436-020-00971-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790745/
https://www.ncbi.nlm.nih.gov/pubmed/32981931
http://dx.doi.org/10.1038/s41436-020-00971-4

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