Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
Vilarinho S et al.
Hepatology (baltimore, Md.), 2016
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
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
Pediatric neurological syndromes and inborn errors of purine metabolism.
Camici M et al.
Neurochemistry International, 2010
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
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
Sarzi E et al.
The Journal of Pediatrics, 2007
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
Mousson de Camaret B et al.
The Biochemical Journal, 2007
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Slama A et al.
Molecular Genetics and Metabolism, 2005