Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Autosomal recessive pathogenetic variants in the DGUOK gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onse...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
Oxford University Press
2024
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