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-Reference-Cited by-同舟云学术

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

Published:2011 Issue:4 Volume:17 Page:CR203-CR209
ISSN:1234-1010
Container-title:Medical Science Monitor
language:en
Short-container-title:Med Sci Monit

Author:

Pronicka Ewa¹,Weglewska-Jurkiewicz Anna²,Pronicki Maciej³,Sykut-Cegielska Jolanta¹,Kowalski Pawel⁴,Pajdowska Magdalena⁵,Jankowska Irena⁶,Kotulska Katarzyna⁷,Kalicinski Piotr⁸,Jakobkiewicz-Banecka Joanna⁹,Wegrzyn Grzegorz⁹

Affiliation:

1. Department of Metabolic Diseases, Endocrinology and Diabetology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

2. Department of Metabolic Diseases, Endocrinology and Diabetology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland and Department of Molecular Biology, University of Gdańsk, Gdansk, Poland

3. Department of Pathology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

4. Department of Medical Genetics, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

5. Department of Biochemistry and Experimental Medicine, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

6. Department of Gastroenterology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

7. Department of Neurology and Epileptology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

8. Department of Surgery and Transplantology, Children’s Memorial Health Institute (CMHI) Warsaw, Poland

9. Department of Molecular Biology, University of Gdańsk, Gdansk, Poland

Publisher

International Scientific Information, Inc.

Subject

General Medicine

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