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Volumn 19, Issue 2, 1996, Pages 133-136

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

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; DIGITONIN;

EID: 0029887691     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799412     Document Type: Conference Paper
Times cited : (20)

References (9)
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    • Unusual clinical presentations in two boys with cytochrome c oxidase deficiency
    • Hrebicek M, Zeman J, Petrak B, et al (1992) Unusual clinical presentations in two boys with cytochrome c oxidase deficiency. J Inher Metab Dis 15: 320-322.
    • (1992) J Inher Metab Dis , vol.15 , pp. 320-322
    • Hrebicek, M.1    Zeman, J.2    Petrak, B.3
  • 2
    • 0023100360 scopus 로고
    • Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to the pathogenesis of Leigh disease
    • 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.
    • (1987) J Pediatr , vol.110 , pp. 216-222
    • Robinson, B.H.1    De Meirleir, L.2    Glerum, M.3
  • 3
    • 0025123850 scopus 로고
    • The use of skin ftbroblast cultures in the detection of respiratory chain defects in patients with lactic acidemia
    • Robinson BH, Glerum M, Chow W, Petrova-Benedict R, Lightowlers R, Capaldi R (1990) The use of skin ftbroblast cultures in the detection of respiratory chain defects in patients with lactic acidemia. Pediatr Res 28: 549-555.
    • (1990) Pediatr Res , vol.28 , pp. 549-555
    • Robinson, B.H.1    Glerum, M.2    Chow, W.3    Petrova-Benedict, R.4    Lightowlers, R.5    Capaldi, R.6
  • 4
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61: 1175-1212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 5
    • 0026511179 scopus 로고
    • 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
    • Wanders R JA, 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.
    • (1992) J Inher Metab Dis , vol.15 , pp. 84-91
    • Wanders, R.J.A.1    Wijburg, F.A.2    Ruiter, J.P.N.3
  • 6
    • 0027238928 scopus 로고
    • Studies on mitochondrial oxidative phosphorylation in permeabilized human skin flbroblasts: Application to mitochondrial encephalomyopathies
    • Wanders R JA, Ruiter JPN, Wijburg FA (1993) Studies on mitochondrial oxidative phosphorylation in permeabilized human skin flbroblasts: application to mitochondrial encephalomyopathies. Biochim Biophys Acta 1181: 219-222.
    • (1993) Biochim Biophys Acta , vol.1181 , pp. 219-222
    • Wanders, R.J.A.1    Ruiter, J.P.N.2    Wijburg, F.A.3
  • 7
    • 0029593424 scopus 로고
    • Measurement of peroxisomal fatty acid β-oxidation in cultured skin fibroblasts
    • Wanders RJA, Denis S, Ruiter JPN, et al (1995) Measurement of peroxisomal fatty acid β-oxidation in cultured skin fibroblasts. J Inher Metab Dis 18 (suppl 1): 113-124.
    • (1995) J Inher Metab Dis , vol.18 , Issue.1 SUPPL. , pp. 113-124
    • Wanders, R.J.A.1    Denis, S.2    Ruiter, J.P.N.3
  • 8
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    • Cytochrome c oxidase from beef heart mitochondria
    • Wharton DC, Tzagoloff A (1967) Cytochrome c oxidase from beef heart mitochondria. Methods Enzymol 10: 245-253.
    • (1967) Methods Enzymol , vol.10 , pp. 245-253
    • Wharton, D.C.1    Tzagoloff, A.2
  • 9
    • 0024421922 scopus 로고
    • Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: Implications for the detection of respiratory chain defects
    • Wijburg FA, Feller N, Scholte HR, Przyrembel H, Wanders RJA (1989) Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for the detection of respiratory chain defects. Biochem Int 19: 563-570.
    • (1989) Biochem Int , vol.19 , pp. 563-570
    • Wijburg, F.A.1    Feller, N.2    Scholte, H.R.3    Przyrembel, H.4    Wanders, R.J.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.