Associated Papers
Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Borreguero CF et al.
International Journal of Obesity (2005), 2023
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Jankowska I et al.
Clinics and Research in Hepatology and Gastroenterology, 2021
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Lipiński P et al.
Frontiers in Pediatrics, 2020
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Caporali L et al.
Brain : a Journal of Neurology, 2018
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
Grabhorn E et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2014
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
Dimmock DP et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP et al.
Human Mutation, 2008
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