Advanced search
1 file | 666.22 KB

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

Author
Organization
Keywords
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

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 666.22 KB

Citation

Please use this url to cite or link to this publication:

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.
@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},
}

Altmetric
View in Altmetric
Web of Science
Times cited: