Article
Natural history of deoxyguanosine kinase deficiency.
Molecular genetics and metabolism - 1 Jan 2000
Keshavan Nandaki, Rahman Shamima
Abstract excerpt
BACKGROUND AND OBJECTIVES: Deoxyguanosine kinase deficiency is one genetic cause of mtDNA depletion syndrome. Its major phenotypes include neonatal/infantile-onset hepatocerebral disease, isolated hepatic disease and myopathic disease. In this retrospective study, we seek to describe the natural history of deoxyguanosine kinase deficiency and identify any genotype-phenotype correlations. METHODS: Retrospective...
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