Associated Papers
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
38756539 (PubMed )
Supplement: fcae160_supplementary_data.zip › Supplementary_Tables.pdf
Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Borreguero CF et al.
International Journal of Obesity (2005), 2023
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Waich S et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.
Kasapkara CS et al.
Journal of Pediatric Gastroenterology and Nutrition, 2013
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
Hernandez MA et al.
Orphanet Journal of Rare Diseases, 2010
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
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
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