Associated Papers
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
38756539 (PubMed )
Supplement: fcae160_supplementary_data.zip › Supplementary_Tables.pdf
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower A et al.
Scientific Reports, 2019
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Sezer T et al.
Journal of Child Neurology, 2015
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
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