Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation

Background: SLC13A3 gene encodes the Na(+)/dicarboxylate cotransporter 3 (NaDC3), which locates on the plasma membrane and is mainly expressed in kidney, astrocytes and the choroid plexus. It imports four to six carbon dicarboxylates together with three Na(+) ions into the cytosol. Nowadays, pathoge...

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Detalles Bibliográficos
Autores principales: Kang, Qingyun, Yang, Liming, Liao, Hongmei, Yang, Sai, Yang, Haiyang, Ning, Zeshu, Liao, Caishi, Wu, Liwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710692/
https://www.ncbi.nlm.nih.gov/pubmed/34966709
http://dx.doi.org/10.3389/fped.2021.801719

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710692/
https://www.ncbi.nlm.nih.gov/pubmed/34966709
http://dx.doi.org/10.3389/fped.2021.801719

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