Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

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 Ciitizen, an Invitae company, wi...

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Detalles Bibliográficos
Autores principales: Spelbrink, Emily M., Brown, Tanya L., Brimble, Elise, Blanco, Kirsten A., Nye, Kimberly L., Porter, Brenda E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072280/
https://www.ncbi.nlm.nih.gov/pubmed/37025451
http://dx.doi.org/10.3389/fgene.2023.1109547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072280/
https://www.ncbi.nlm.nih.gov/pubmed/37025451
http://dx.doi.org/10.3389/fgene.2023.1109547

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