Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells-Reference-Cited by-同舟云学术

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells

Published:1996-03 Issue:2 Volume:19 Page:133-136
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wanders R. J. A.,Ruiter J. P. N.,Wijburg F. A.,Zeman J.,Klement P.,Houstek J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799412

Reference9 articles.

1. Hrebicek M, Zeman J, Petrak B, et al (1992) Unusual clinical presentations in two boys with cytochromec oxidase deficiency.J Inher Metab Dis 15: 320–322.

2. Robinson BH, De Meirleir L, Glerum M, et al (1987) Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to the pathogenesis of Leigh disease.J Pediatr 110: 216–222.

3. Robinson BH, Glerum M, Chow W, Petrova-Benedict R, Lightowlers R, Capaldi R (1990) The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lactic acidemia.Pediatr Res 28: 549–555.

4. Wallace DC (1992) Diseases of the mitochondrial DNA.Annu Rev Biochem 61: 1175–1212.

5. Wanders RJA, Wijburg FA, Ruiter JPN, et al (1992) Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.J Inher Metab Dis 15: 84–91.

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