Associated Papers
Favorable Outcome after Liver Transplantation in an Infant with Liver Failure Due to Deoxyguanosine Kinase Deficiency.
Grama A et al.
Journal of Clinical Medicine, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report.
Ramboux A et al.
Journal of Medical Case Reports, 2023
Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Borreguero CF et al.
International Journal of Obesity (2005), 2023
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Guzman H et al.
Frontiers in Endocrinology, 2023
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
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Pronicka E et al.
Journal of Applied Genetics, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Natural history of deoxyguanosine kinase deficiency.
Keshavan N et al.
Molecular Genetics and Metabolism, 0
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