Uridine Treatment of the First Known Case of SLC25A36 Deficiency
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DOI: 10.3390/ijms22189929
Abstract: SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In human… read more here.
Keywords: slc25a36 deficiency; slc25a36; case slc25a36; known case ... See more keywords