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

Ewa Pronicka , Anna Węglewska-Jurkiewicz , Joanna Taybert , Maciej Pronicki , Tamara Szymańska-Dębińska , Agnieszka Karkucińska-Więckowska , Joanna Jakóbkiewicz-Banecka , Paweł Kowalski , Dorota Piekutowska-Abramczuk , Magdalena Pajdowska , Piotr Socha , Jolanta Sykut-Cegielska , Grzegorz Węgrzyn

Abstract

n/a
Author Ewa Pronicka
Ewa Pronicka,,
-
, Anna Węglewska-Jurkiewicz
Anna Węglewska-Jurkiewicz,,
-
, Joanna Taybert
Joanna Taybert,,
-
, Maciej Pronicki
Maciej Pronicki,,
-
, Tamara Szymańska-Dębińska
Tamara Szymańska-Dębińska,,
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, Agnieszka Karkucińska-Więckowska
Agnieszka Karkucińska-Więckowska,,
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, Joanna Jakóbkiewicz-Banecka (FB / DMBG)
Joanna Jakóbkiewicz-Banecka,,
- Katedra Biologii i Genetyki Medycznej
, Paweł Kowalski
Paweł Kowalski,,
-
, Dorota Piekutowska-Abramczuk
Dorota Piekutowska-Abramczuk,,
-
, Magdalena Pajdowska
Magdalena Pajdowska,,
-
et al.`
Journal seriesJournal of Applied Genetics, ISSN 1234-1983, (A 20 pkt)
Issue year2011
Vol52
No1
Pages61-66
Keywords in EnglishDGUOK gene mutation, mtDNA depletion, neonatal liver failure, hypoglycemia, iron overload, natural history of the disease
DOIDOI:10.1007/s13353-010-0008-y
URL http://www.springerlink.com/content/861p02875546px66/fulltext.pdf
Languageen angielski
Score (nominal)20
Publication indicators WoS Impact Factor: 2011 = 1.664 (2) - 2011=1.749 (5)
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