Age‐related phenotype and biomarker changes in SSADH deficiency

OBJECTIVE: Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma‐amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB) and a complex neuropsychiatric profile. Adult reports suggest worsening epilepsy and high SUDEP risk. METHODS: Subjects with confirmed SSADH...

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Detalles Bibliográficos
Autores principales: DiBacco, Melissa L., Roullet, Jean‐Baptiste, Kapur, Kush, Brown, Madalyn N., Walters, Dana C., Gibson, K. Michael, Pearl, Phillip L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331944/
https://www.ncbi.nlm.nih.gov/pubmed/30656189
http://dx.doi.org/10.1002/acn3.696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331944/
https://www.ncbi.nlm.nih.gov/pubmed/30656189
http://dx.doi.org/10.1002/acn3.696

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