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Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Emmanuel Scalais, Baudouin François, Patrick Schlesser, Rene Stevens, Christian Nuttin, Jean-Jacques Martin, Rudy Van Coster UGent, Sara Seneca, Frank Roels UGent and Gert Van Goethem, et al. (2012) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 16(5). p.542-548
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
Mitochondrial DNA depletion, Polymerase gamma deficiency, Long chain triglyceride toxicity, Leigh syndrome features, Alpers syndrome, Myocerebrohepatopathy spectrum, MITOCHONDRIAL-DNA DEPLETION, MTDNA DEPLETION, GENE MUTATION, HEPATOCEREBRAL SYNDROMES, HUTTENLOCHER-DISEASE, THYMIDINE KINASE, FEATURES, LIVER
journal title
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Eur. J. Paediatr. Neurol.
volume
16
issue
5
pages
542 - 548
Web of Science type
Article
Web of Science id
000308384300019
JCR category
PEDIATRICS
JCR impact factor
1.982 (2012)
JCR rank
36/119 (2012)
JCR quartile
2 (2012)
ISSN
1090-3798
DOI
10.1016/j.ejpn.2012.01.013
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
2057719
handle
http://hdl.handle.net/1854/LU-2057719
date created
2012-03-02 16:06:46
date last changed
2013-07-08 15:50:54
@article{2057719,
  author       = {Scalais, Emmanuel and Fran\c{c}ois, Baudouin  and  Schlesser, Patrick and Stevens, Rene  and  Nuttin, Christian and  Martin, Jean-Jacques and Van Coster, Rudy and  Seneca, Sara and Roels, Frank and Van Goethem, Gert  and L{\"o}fgren, Ann  and  De Meirleir, Linda},
  issn         = {1090-3798},
  journal      = {EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY},
  keyword      = {Mitochondrial DNA depletion,Polymerase gamma deficiency,Long chain triglyceride toxicity,Leigh syndrome features,Alpers syndrome,Myocerebrohepatopathy spectrum,MITOCHONDRIAL-DNA DEPLETION,MTDNA DEPLETION,GENE MUTATION,HEPATOCEREBRAL SYNDROMES,HUTTENLOCHER-DISEASE,THYMIDINE KINASE,FEATURES,LIVER},
  language     = {eng},
  number       = {5},
  pages        = {542--548},
  title        = {Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh{\textquoteright}s encephalopathy},
  url          = {http://dx.doi.org/10.1016/j.ejpn.2012.01.013},
  volume       = {16},
  year         = {2012},
}

Chicago
Scalais, Emmanuel, Baudouin François, Patrick Schlesser, Rene Stevens, Christian Nuttin, Jean-Jacques Martin, Rudy Van Coster, et al. 2012. “Polymerase Gamma Deficiency (POLG): Clinical Course in a Child with Two Stage Evolution from Infantile Myocerebrohepatopathy Spectrum to an Alpers Syndrome and Neuropathological Findings of Leigh’s Encephalopathy.” European Journal of Paediatric Neurology 16 (5): 542–548.
APA
Scalais, E., François, B., Schlesser, P., Stevens, R., Nuttin, C., Martin, J.-J., Van Coster, R., et al. (2012). Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 16(5), 542–548.
Vancouver
1.
Scalais E, François B, Schlesser P, Stevens R, Nuttin C, Martin J-J, et al. Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2012;16(5):542–8.
MLA
Scalais, Emmanuel, Baudouin François, Patrick Schlesser, et al. “Polymerase Gamma Deficiency (POLG): Clinical Course in a Child with Two Stage Evolution from Infantile Myocerebrohepatopathy Spectrum to an Alpers Syndrome and Neuropathological Findings of Leigh’s Encephalopathy.” EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 16.5 (2012): 542–548. Print.