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

Journal of Applied Genetics

Volumn 52, Issue 1, 2011, Pages 61-66

  Pronicka, Ewa ^a   Weglewska Jurkiewicz, Anna ^a   Taybert, Joanna ^a   Pronicki, Maciej ^a   Szymańska Debińska, Tamara ^a,b   Karkucińska Wieckowska, Agnieszka ^b   Jakóbkiewicz Banecka, Joanna ^b   Kowalski, Paweł ^a   Piekutowska Abramczuk, Dorota ^a   Pajdowska, Magdalena ^a   Socha, Piotr ^a   Sykut Cegielska, Jolanta ^a   Wegrzyn, Grzegorz ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF GDA SK   (Poland)

Author keywords

Dguok gene mutation. mtdna depletion. neonatal liver failure. hypoglycemia. iron overload. natural history of the disease

Indexed keywords

DEOXYGUANOSINE KINASE; GLUCOSE; MITOCHONDRIAL DNA; PHOSPHOTRANSFERASE;

ARTICLE; AUTOPSY; ENZYMOLOGY; FEMALE; GENETICS; HOMEOSTASIS; HOMOZYGOTE; HUMAN; INFANT; IRON OVERLOAD; LIVER FAILURE; MALE; METABOLISM; MUTATION; NEWBORN;

AUTOPSY; DNA, MITOCHONDRIAL; FEMALE; GLUCOSE; HOMEOSTASIS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; IRON OVERLOAD; LIVER FAILURE; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 79953701106     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-010-0008-y     Document Type: Article

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