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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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer-Verlag 2010
Konular:
Online Erişim: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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