Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
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 outcome.
Gespeichert in:
| Hauptverfasser: | , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2021
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| In: |
Genetics in medicine
Year: 2021, Jahrgang: 23, Heft: 1, Pages: 13-21 |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/s41436-020-00971-4 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41436-020-00971-4 Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41436-020-00971-4 
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| Verfasserangaben: | Nikolas Boy, MD, Katharina Mengler, MD, Jana Heringer-Seifert, MD, Georg F. Hoffmann, MD, Sven F. Garbade, PhD and Stefan Kölker, MD |
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