Associated Papers
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Hassan S et al.
Pediatric Transplantation, 2020
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
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
Mousson de Camaret B et al.
The Biochemical Journal, 2007
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
Labarthe F et al.
Journal of Hepatology, 2005
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome.
Wang L et al.
Febs Letters, 2003
Mitochondrial DNA depletion and dGK gene mutations.
Salviati L et al.
Annals of Neurology, 2002
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0