Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > deoxyguanosine kinase deficiency
deoxyguanosine kinase deficiency
Friday 16 September 2011
Synopsis
neonatal hemochromatosis
severe progressive liver failure
References
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Mol Genet Metab. 2011 Jul;103(3):262-7. PMID: 21478040
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, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G. J Appl Genet. 2011 Feb;52(1):61-6. Epub 2010 Nov 16. PMID: 21107780
