Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic aetiologies of acute liver failure.
Hegarty R et al.
Journal of Inherited Metabolic Disease, 2024
Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature.
Duong JT et al.
Pediatric Transplantation, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
The genetics of portal hypertension: Recent developments and the road ahead.
Shalaby S et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child.
Li JQ et al.
Frontiers in Pediatrics, 2023
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Montano V et al.
Case Reports in Neurological Medicine, 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
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
Berglund AK et al.
Plos Genetics, 2017
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
Vilarinho S et al.
Hepatology (baltimore, Md.), 2016
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
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
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D et al.
Brain : a Journal of Neurology, 2012
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
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Shieh JT et al.
Journal of Pediatric Gastroenterology and Nutrition, 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