Associated Papers
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.
Ozlu C et al.
Developmental Medicine and Child Neurology, 2025
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.
Spelbrink EM et al.
Frontiers in Genetics, 2023
Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder.
Brown TL et al.
Metabolites, 2021
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
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