Clinical and molecular outcomes from the 5-Year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder
Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
24 April 2024
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| In: |
Journal of neurodevelopmental disorders
Year: 2024, Jahrgang: 16, Heft: 1, Pages: 1-15 |
| ISSN: | 1866-1955 |
| DOI: | 10.1186/s11689-024-09538-9 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s11689-024-09538-9 Verlag, kostenfrei, Volltext: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-024-09538-9 
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| Verfasserangaben: | Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl |
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