Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients-Reference-Cited by-同舟云学术

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Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients

Published:1996-03 Issue:2 Volume:19 Page:143-148
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Caruso U.,Adami A.,Bertini E.,Burlina A. B.,Carnevale F.,Cerone R.,Dionisi-Vici C.,Giordano G.,Leuzzi E.,Parenti G.,Savasta S.,Uziel G.,Zeviani M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799415

Reference6 articles.

1. Burlina AB, Dionisi-Vici C, Bennett MJ, et al (1994) A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.J Pediatr 124: 79–86.

2. Comier V, Rotig A, Rasore Quartino A, et al (1990) Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow — pancreas syndrome.J Pediatr 117: 599–602.

3. De Vivo DC, Di Mauro S (1990) Disorders of pyruvate metabolism, the critic acid cycle, and the respiratory chain. In Fernandes J, Saudubray JM and Tada K, eds.Inborn Metabolic Diseases. Diagnosis and Treatment. Berlin: Springer-Verlag, 127–156.

4. Garavaglia B, Colamaria V, Carrara F, et al (1994) Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.J Inher Metab Dis 17: 301–303.

5. Mazziotta MRM, Ricci E, Bertini E, et al (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion.J Pediatr 121: 896–901.

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