Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

Ewa Pronicka , Anna Węglewska-Jurkiewicz , Maciej Pronicki , Jolanta Sykut-Cegielska , Paweł Kowalski , Magdalena Pajdowska , Irena Jankowska , Katarzyna Kotulska , Piotr Kaliciński , Joanna Jakóbkiewicz-Banecka , Grzegorz Węgrzyn

Abstract

n/a
Author Ewa Pronicka
Ewa Pronicka,,
-
, Anna Węglewska-Jurkiewicz
Anna Węglewska-Jurkiewicz,,
-
, Maciej Pronicki
Maciej Pronicki,,
-
, Jolanta Sykut-Cegielska
Jolanta Sykut-Cegielska,,
-
, Paweł Kowalski
Paweł Kowalski,,
-
, Magdalena Pajdowska
Magdalena Pajdowska,,
-
, Irena Jankowska
Irena Jankowska,,
-
, Katarzyna Kotulska
Katarzyna Kotulska,,
-
, Piotr Kaliciński
Piotr Kaliciński,,
-
, Joanna Jakóbkiewicz-Banecka (FB / DMBG)
Joanna Jakóbkiewicz-Banecka,,
- Katedra Biologii i Genetyki Medycznej
et al.`
Journal seriesMedical Science Monitor, ISSN 1234-1010, e-ISSN 1643-3750, (A 15 pkt)
Issue year2011
Vol17
No4
PagesCR203-CR209
Keywords in Englishdrug-resistant epilepsy, valproate liver toxicity, Alpers-Huttenlocher syndrome, POLG gene mutation
Languageen angielski
Score (nominal)20
Publication indicators WoS Impact Factor: 2013 = 1.216 (2) - 2013=1.213 (5)
Citation count*
Cite
Share Share

Get link to the record


* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
Back