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- Title
Proceedings of the International SSADH Deficiency 2020 Conference.
- Authors
Pearl, Phillip L.; DiBacco, Melissa L.; Roullet, Jean-Baptiste; Gibson, K. Michael
- Abstract
Given the exigencies of the COVID-19 pandemic that persisted throughout 2020 and well into 2021, the planned conference for physicians, investigators, and families on SSADH deficiency was moved from a promising venue in Boston to a virtual space but retained a sense of enthusiasm and progress that has held promise since these meetings began nearly two decades ago. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Succinic semialdehyde dehydrogenase (SSADH) deficiency is an ultra-rare disorder of the metabolism of the major inhibitor neurotransmitter, GABA (gamma-amino butyric acid), with myriad biochemical and clinical manifestations.
- Subjects
SUCCINATE dehydrogenase; ENZYME replacement therapy; COVID-19 pandemic; CONFERENCES &; conventions; QUALITY of life
- Publication
Journal of Child Neurology, 2021, Vol 36, Issue 13/14, p1151
- ISSN
0883-0738
- Publication type
Editorial
- DOI
10.1177/08830738211061930