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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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Main Authors: Tokatly Latzer, Itay (Author) , Roullet, Jean-Baptiste (Author) , Afshar-Saber, Wardiya (Author) , Lee, Henry H. C. (Author) , Bertoldi, Mariarita (Author) , McGinty, Gabrielle E. (Author) , DiBacco, Melissa L. (Author) , Arning, Erland (Author) , Tsuboyama, Melissa (Author) , Rotenberg, Alexander (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Àngels (Author) , Julià-Palacios, Natalia (Author) , Gibson, K. Michael (Author) , Sahin, Mustafa (Author) , Pearl, Phillip L. (Author)
Format: Article (Journal)
Language:English
Published: 24 April 2024
In: Journal of neurodevelopmental disorders
Year: 2024, Volume: 16, Issue: 1, Pages: 1-15
ISSN:1866-1955
DOI:10.1186/s11689-024-09538-9
Online Access: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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Author Notes: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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Summary: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 clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy.
Item Description:Gesehen am 20.01.2025
Physical Description:Online Resource
ISSN:1866-1955
DOI:10.1186/s11689-024-09538-9

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