Publications
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Filters: Author is Elsea, Sarah H [Clear All Filters]
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 ;121(4):314-319.
. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 ;145(3):909-924.
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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 ;145(5):e36-e40.
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