DOI: 10.1016/s0387-7604(12)80349-4. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome

10.1016/s0387-7604(12)80349-4

Crossref journal-article

Elsevier BV

Brain and Development (78)

Bibliography

Bourgeois, M., Goutieres, F., Chretien, D., Rustin, P., Munnich, A., & Aicardi, J. (1992). Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome. Brain and Development, 14(6), 404â408.

Authors 6

Marie Bourgeois (first)
Françoise Goutieres (additional)
Dominique Chretien (additional)
Pierre Rustin (additional)
Arnold Munnich (additional)
Jean Aicardi (additional)

References 24 Referenced 62

10.1542/peds.79.3.370 / Pediatrics / Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease) by Kretzschmar (1987)
10.1007/BF00769635 / J Bioenerg Biomembr / Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase by Robinson (1988)
10.1002/ana.410220409 / Ann Neurol / Cytochrome c oxidase deficiency in Leigh syndrome by Di Mauro (1987)
10.1542/peds.60.6.850 / Paediatrics / Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue by Willems (1977)
10.1016/S0387-7604(84)80112-6 / Brain Dev (Tokyo) / Cytochrome c oxidase deficiency in two siblings with Leigh encephalomyelopathy by Miyabayashi (1984)
10.1203/00006450-198404001-00772 / Pediatr Res / Deficiency of muscle cytochrome c oxidase in Leigh's disease (abstract) by Hoganson (1984)
10.1016/0022-510X(87)90211-5 / J Neurol Sci / Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy by Arts (1987)
10.1007/BF01799214 / J Inher Metab Dis / Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh's syndrome) by Hayasaka (1989)
10.1016/S0006-291X(05)81016-2 / Biochem Biophys Res Commun / The measurement of the rotenone sensitive NADH cytochrome c reductase activity in the mitochondria isolated from minute amount of human skeletal muscle by Chretien (1990)
10.1016/0140-6736(91)90057-V / Lancet / Assessment of the mitochondrial respiratory chain by Rustin (1991)
{'key': '10.1016/S0387-7604(12)80349-4_bib11', 'series-title': 'Methods of enzymatic analysis', 'first-page': '1', 'author': 'Bergmeyer', 'year': '1963'} / Methods of enzymatic analysis by Bergmeyer (1963)
10.1111/j.1469-8749.1970.tb01937.x / Dev Med Child Neurol / Necrotizing encephalomyelopathy (Leigh) by David (1970)
10.1007/BF00710323 / Acta Neuropathol (Berl) / Ses relations éventuelles avec l'encéphalopathie nécrosante subaiguë by Goutières (1974)
{'key': '10.1016/S0387-7604(12)80349-4_bib14', 'first-page': '2', 'article-title': 'Leuco- et polioencéphalopathies symétriques nécrosantes', 'volume': '103', 'author': 'Poser', 'year': '1960', 'journal-title': 'Rev Neurol'} / Rev Neurol / Leuco- et polioencéphalopathies symétriques nécrosantes by Poser (1960)
10.1097/00005072-195707000-00001 / J Neuropathol Exp Neurol / Infantile subacute necrotizing encephalopathy with predilection for the brain stem by Richter (1957)
10.1212/WNL.8.4.285 / Neurology (Minneap) / Progressive demyelinating leukoencephalopathy by Wohlwill (1958)
{'key': '10.1016/S0387-7604(12)80349-4_bib17', 'series-title': 'Regulation of metabolic process in mitochondria', 'first-page': '86', 'article-title': 'Factors affecting the utilization of substrates by mitochondria', 'author': 'Greville', 'year': '1966'} / Regulation of metabolic process in mitochondria / Factors affecting the utilization of substrates by mitochondria by Greville (1966)
10.1203/00006450-198410000-00017 / Pediatr Res / Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain by Kennaway (1984)
10.1212/WNL.34.1.48 / Neurology (Cleveland) / Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity by Riggs (1984)
10.1212/WNL.39.5.693 / Neurology / Kearns-Sayre syndrome and complex II deficiency by Rivner (1989)
10.1007/BF00442676 / Eur J Pediatr / A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency by Sengers (1983)
10.1007/BF00496424 / Eur J Pediatr / Mitochondrial myopathy with lactic acidaemia: Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity by Sperl (1988)
10.1007/BF01811683 / J Inher Metab Dis / Fetal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate c cytochrome c reductase by Vilaseca (1991)
10.1146/annurev.bi.54.070185.005055 / Ann Rev Biochem / The mitochondrial electron transport and oxidative phosphorylation system by Hatefi (1985)

Dates

Type	When
Created	13 years, 4 months ago (April 26, 2012, 12:34 a.m.)
Deposited	3 years, 7 months ago (Jan. 13, 2022, 9:01 p.m.)
Indexed	11 months, 2 weeks ago (Sept. 16, 2024, 5:41 p.m.)
Issued	32 years, 10 months ago (Nov. 1, 1992)
Published	32 years, 10 months ago (Nov. 1, 1992)
Published Print	32 years, 10 months ago (Nov. 1, 1992)

Funders 0

None

BibTeX

@article{Bourgeois_1992, title={Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome}, volume={14}, ISSN={0387-7604}, url={http://dx.doi.org/10.1016/s0387-7604(12)80349-4}, DOI={10.1016/s0387-7604(12)80349-4}, number={6}, journal={Brain and Development}, publisher={Elsevier BV}, author={Bourgeois, Marie and Goutieres, Françoise and Chretien, Dominique and Rustin, Pierre and Munnich, Arnold and Aicardi, Jean}, year={1992}, month=nov, pages={404–408} }

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