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Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
The deficiency of CITRIN, the liver mitochondrial aspartate–glutamate carrier (AGC), is the cause of four human clinical phenotypes, neonatal intrahepatic cholestasis caused by CITRIN deficiency (NICCD), silent period, failure to thrive and dyslipidemia caused by CITRIN deficiency (FTTDCD), and citr...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031141/ https://www.ncbi.nlm.nih.gov/pubmed/36967723 http://dx.doi.org/10.1016/j.ymgmr.2023.100967 |