Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy-Reference-Cited by-同舟云学术

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

Published:2011-10-22 Issue:3 Volume:35 Page:451-458
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Giordano Carla,Viscomi Carlo,Orlandi Maurizia,Papoff Paola,Spalice Alberto,Burlina Alberto,Di Meo Ivano,Tiranti Valeria,Leuzzi Vincenzo,d’Amati Giulia,Zeviani Massimo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9408-3

Reference17 articles.

1. Barth M, Ottolenghi C, Hubert L et al. (2010) Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis Oct 27. [Epub ahead of print]

2. Burlina A, Zacchello F, Dionisi-Vici C et al. (1991) New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 338:1522–1523

3. Cavanagh JB, Harding BN (1994) Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117:1357–1376

4. Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V (2011) Chronic exposure to sulphide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal 5(2):353–362

5. Dorman DC, Moulin FJ, McManus BE, Mahle KC, James RA, Struve MF (2002) Cytochrome oxidase inhibition induced by acute hydrogen sulphide inhalation: correlation with tissue sulphide concentrations in the rat brain, liver, lung, and nasal epithelium. Toxicol Sci 65(1):18–25

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