Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1109547
Abstract: Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical records collected by… read more here.
Keywords: citrate; citrate transporter; slc13a5 citrate; transporter disorder ... See more keywords