Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model m...
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
About this item
Full title
Author / Creator
Tokatly Latzer, Itay , Roullet, Jean-Baptiste , Afshar-Saber, Wardiya , Lee, Henry H. C. , Bertoldi, Mariarita , McGinty, Gabrielle E. , DiBacco, Melissa L. , Arning, Erland , Tsuboyama, Melissa , Rotenberg, Alexander , Opladen, Thomas , Jeltsch, Kathrin , García-Cazorla, Àngels , Juliá-Palacios, Natalia , Gibson, K. Michael , Sahin, Mustafa and Pearl, Phillip L.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 mo...
Alternative Titles
Full title
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Authors, Artists and Contributors
Author / Creator
Roullet, Jean-Baptiste
Afshar-Saber, Wardiya
Lee, Henry H. C.
Bertoldi, Mariarita
McGinty, Gabrielle E.
DiBacco, Melissa L.
Arning, Erland
Tsuboyama, Melissa
Rotenberg, Alexander
Opladen, Thomas
Jeltsch, Kathrin
García-Cazorla, Àngels
Juliá-Palacios, Natalia
Gibson, K. Michael
Sahin, Mustafa
Pearl, Phillip L.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cb335a1bff7e48c685c43cab55795ad8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cb335a1bff7e48c685c43cab55795ad8
Other Identifiers
ISSN
1866-1955,1866-1947
E-ISSN
1866-1955
DOI
10.1186/s11689-024-09538-9
