Articles with "ssadh deficiency" as a keyword



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Age‐related phenotype and biomarker changes in SSADH deficiency

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Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.696

Abstract: 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. read more here.

Keywords: phenotype biomarker; biomarker changes; ssadh deficiency; age related ... See more keywords