2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case-Reference-Cited by-同舟云学术

2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case

Published:1993 Issue:5 Volume:16 Page:821-830
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Guffon N.,Lopez-Mediavilla C.,Dumoulin R.,Mousson B.,Godinot C.,Carrier H.,Collombet J. M.,Divry P.,Mathieu M.,Guibaud P.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00714273

Reference10 articles.

1. Bonnefont JP, Chretien D, Rustin P et al (1992) Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.J Pediatr 121: 255?258.

2. Bresolin N, Zeviani M, Bonilla E et al (1985) Fatal infantile cytochromec oxidase deficiency: decrease of immunologically detectable enzyme in muscle.Neurology 35: 802?812.

3. Chance B, Williams GR (1956) The respiratory chain and oxidative phosphorylation.Adv Enzymol 17: 65?134.

4. Collombet JM, Zabot MT, Vidailhet M et al (1993) Intérêt des fibroblastes cutanés en culture pour le diagnostic des cytopathies mitochondriales.Pediatrie 48: 287?295.

5. Comte J, Gautheron DC, Godinot C et al (1990) Effects of chronic torbafylline treatment on energy metabolism of ischemic skeletal muscle.Drug Dev Res 20: 291?299.

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