Age‐related phenotype and biomarker changes in SSADH deficiency
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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