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| |  Online-Ressource |
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| Verfasst von: | Boy, Nikolas [VerfasserIn]  |
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| | Mengler, Katharina [VerfasserIn] |
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| | Heringer-Seifert, Jana [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Garbade, Sven [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| Titel: | Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 |
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| Titelzusatz: | a meta-analysis |
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| Verf.angabe: | 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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| Jahr: | 2021 |
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| Umfang: | 9 S. |
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| Fussnoten: | Published: 28 September 2020 ; Gesehen am 27.10.2021 |
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| Titel Quelle: | Enthalten in: Genetics in medicine |
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| Ort Quelle: | London, UK : Springer Nature, 1998 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 23(2021), 1, Seite 13-21 |
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| ISSN Quelle: | 1530-0366 |
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| Abstract: | 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. |
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| DOI: | doi:10.1038/s41436-020-00971-4 |
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| URL: | kostenfrei: Volltext ; Verlag: https://doi.org/10.1038/s41436-020-00971-4 |
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| | kostenfrei: Volltext: https://www.nature.com/articles/s41436-020-00971-4 |
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| | DOI: https://doi.org/10.1038/s41436-020-00971-4 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Biomedicine |
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| | general |
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| | Human Genetics |
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| | Laboratory Medicine |
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| K10plus-PPN: | 1775564053 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 / Boy, Nikolas [VerfasserIn]; 2021 (Online-Ressource)
68794204
