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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer-Verlag 2010
Schlagworte:
Human Genetics · Short Communication
Online Zugang: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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