The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy
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SLC13A5-developmental and epileptic encephalopathy (SLC13A5-DEE) is a rare autosomal recessive disorder characterized by neonatal-onset seizures, global developmental delay, and amelogenesis imperfecta. Diagnosis can be particularly challenging when genetic te... ...
