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

Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four af...

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Autores principales: Pronicka, Ewa, Węglewska-Jurkiewicz, Anna, Taybert, Joanna, Pronicki, Maciej, Szymańska-Dębińska, Tamara, Karkucińska-Więckowska, Agnieszka, Jakóbkiewicz-Banecka, Joanna, Kowalski, Paweł, Piekutowska-Abramczuk, Dorota, Pajdowska, Magdalena, Socha, Piotr, Sykut-Cegielska, Jolanta, Węgrzyn, Grzegorz
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer-Verlag 2010
Materias:
Human Genetics · Short Communication
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3026684/
https://ncbi.nlm.nih.gov/pubmed/21107780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-010-0008-y
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