| |  Online resource |
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| Verfasst von: | Urban, Oliver Y. [VerfasserIn]  |
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| | Driedger, Jan Henje [VerfasserIn] |
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| | Garbade, Sven [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Ries, Markus [VerfasserIn] |
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| | Syrbe, Steffen [VerfasserIn] |
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| Titel: | Systematic quantitative modeling of the natural history of Aicardi syndrome |
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| Titelzusatz: | a cross sectional study of 245 published cases |
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| Verf.angabe: | Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and Steffen Syrbe |
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| E-Jahr: | 2024 |
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| Jahr: | 04 December 2024 |
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| Umfang: | 11 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Gesehen am 09.12.2024 |
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| Titel Quelle: | Enthalten in: Orphanet journal of rare diseases |
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| Ort Quelle: | London : BioMed Central, 2006 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 19(2024), Artikel-ID 457, Seite 1-11 |
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| ISSN Quelle: | 1750-1172 |
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| Abstract: | Aicardi syndrome is a rare epileptic encephalopathy, almost exclusively affecting girls. It was first described as a triad of infantile spasms, chorioretinal defects and agenesis of the corpus callosum. The etiology remains unknown and there is uncertainty on best practice therapy and outcome. We aimed at defining quantitative clinical endpoints that will inform future research and clinical trials. |
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| DOI: | doi:10.1186/s13023-024-03375-8 |
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| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications.
kostenfrei: Volltext: https://doi.org/10.1186/s13023-024-03375-8 |
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| | kostenfrei: Volltext: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03375-8 |
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| | DOI: https://doi.org/10.1186/s13023-024-03375-8 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Agenesis of corpus callosum |
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| | Aicardi syndrome |
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| | Chorioretinal lacunae |
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| | Epileptic encephalopathy |
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| | Infantile spasms |
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| | Natural history |
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| K10plus-PPN: | 1911186000 |
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| Verknüpfungen: | → Journal |
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Systematic quantitative modeling of the natural history of Aicardi syndrome / Urban, Oliver Y. [VerfasserIn]; 04 December 2024 (Online-Ressource)
