-
1
-
-
0026687553
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
2042432480
-
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
-
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
|