Concepedia

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul J. Karpen, Lee-Jun Wong, Fernando Scaglia

Molecular Genetics and Metabolism · 2011 · 39 citations · 29 references

DOI

Concepts

References

29

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 585 citations

, , +11

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa et al. · The American Journal of Human Genetics · 2002 · 297 citations · Full text

, , +17

Clinical and molecular features of mitochondrial DNA depletion syndromes

Antonella Spinazzola, Federica Invernizzi, F. Carrara et al. · Journal of Inherited Metabolic Disease · 2008 · 187 citations

, , +14

Treatment of Neonatal Hemochromatosis with Exchange Transfusion and Intravenous Immunoglobulin

Elizabeth B. Rand, Saul J. Karpen, Susan Kelly et al. · The Journal of Pediatrics · 2009 · 170 citations

, , +16

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 169 citations · Full text

, , +17