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
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
[Analysis of 6 cases with hepatocerebral mitochondrial DNA depletion syndrome and literature review].
Zhao MX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2.
Xia JK et al.
Pediatrics and Neonatology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
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
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
Deng M et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.
Wang J et al.
Molecular Genetics and Metabolism, 2012
Molecular genetics of mitochondrial disorders.
Wong LJ
Developmental Disabilities Research Reviews, 2010
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.
Lee NC et al.
Archives of Disease in Childhood, 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
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Tadiboyina VT et al.
American Journal of Medical Genetics. Part A, 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