Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
Phillip L PearlMelissa L DiBaccoChristos PapadelisThomas OpladenEllen HansonJean-Baptiste RoulletK Michael GibsonPublished in: Journal of child neurology (2021)
The SSADH Natural History Study is providing a unique opportunity to study the complex pathophysiology longitudinally and derive electrophysiologic, neuroimaging, and laboratory data for correlation and to serve as biomarkers for clinical trials and prognostic assessments in this ultra-rare inherited disorder of GABA metabolism.