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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer-Verlag 2010
Pynciau:
Human Genetics · Short Communication
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg