-
1
-
-
0028147894
-
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
-
Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB (1994) Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 17: 283-286.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 283-286
-
-
Bennett, M.J.1
Weinberger, M.J.2
Sherwood, W.G.3
Burlina, A.B.4
-
2
-
-
0028343409
-
New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders
-
Coates PM (1994) New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders. Eur J Pediatr 153: 49-56.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 49-56
-
-
Coates, P.M.1
-
3
-
-
0027311861
-
The expanding clinical spectrum of mitochondrial diseases
-
De Vivo DC (1993) The expanding clinical spectrum of mitochondrial diseases. Brain Dev 15: 1-22.
-
(1993)
Brain Dev
, vol.15
, pp. 1-22
-
-
De Vivo, D.C.1
-
4
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
DiMauro S, Moraes CT (1993) Mitochondrial encephalomyopathies. Arch Neurol 50: 1197-1208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
DiMauro, S.1
Moraes, C.T.2
-
5
-
-
0025268169
-
3-Hydroxydicarboxylic aciduria - A fatty acid oxidation defect with severe prognosis
-
Hagenfeldt L, von Döbeln U, Holme E, et al (1990) 3-Hydroxydicarboxylic aciduria - a fatty acid oxidation defect with severe prognosis. J Pediatr 116: 387-392.
-
(1990)
J Pediatr
, vol.116
, pp. 387-392
-
-
Hagenfeldt, L.1
Von Döbeln, U.2
Holme, E.3
-
6
-
-
0029063809
-
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Hagenfeldt L, Venizelos N, von Döbeln U (1995) Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inher Metab Dis 18: 245-248.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 245-248
-
-
Hagenfeldt, L.1
Venizelos, N.2
Von Döbeln, U.3
-
7
-
-
0015384891
-
Determination of protein: A modification of the Lowry method that gives a linear photometric response
-
Hartree E F (1972) Determination of protein: a modification of the Lowry method that gives a linear photometric response. Anal Biochem 48: 422-427.
-
(1972)
Anal Biochem
, vol.48
, pp. 422-427
-
-
Hartree, E.F.1
-
8
-
-
0026620865
-
Segregation and manifestations of the mtDNA tRNA (Lys) A → G (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
-
Larsson NG, Tulinius MH, Holme E, et al (1992) Segregation and manifestations of the mtDNA tRNA (Lys) A → G (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 51: 1201-1212.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1201-1212
-
-
Larsson, N.G.1
Tulinius, M.H.2
Holme, E.3
-
10
-
-
0029044651
-
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria
-
Mayatepek KE, Wanders RJA, Hoffmann GE (1995) Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria. J Inher Metab Dis 18: 249-252.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 249-252
-
-
Mayatepek, K.E.1
Wanders, R.J.A.2
Hoffmann, G.E.3
-
11
-
-
0023155640
-
Complementation analysis of fatty acid oxidation disorders
-
Moon A, Rhead WJ (1987) Complementation analysis of fatty acid oxidation disorders. J Clin Invest 79: 59-64.
-
(1987)
J Clin Invest
, vol.79
, pp. 59-64
-
-
Moon, A.1
Rhead, W.J.2
-
13
-
-
0023179086
-
Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders
-
Rhead WJ, Wolff JA, Lipson M, et al (1987) Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 21: 371-376.
-
(1987)
Pediatr Res
, vol.21
, pp. 371-376
-
-
Rhead, W.J.1
Wolff, J.A.2
Lipson, M.3
-
14
-
-
0029877629
-
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
-
Santorelli FM, Mak SC, Vazquezmemije ME, et al (1996) Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 39: 914-917.
-
(1996)
Pediatr Res
, vol.39
, pp. 914-917
-
-
Santorelli, F.M.1
Mak, S.C.2
Vazquezmemije, M.E.3
-
15
-
-
0028040626
-
Genetic disorders of mitochondrial fatty acid oxidation
-
Stanley CA, Hale DE (1994) Genetic disorders of mitochondrial fatty acid oxidation Curr Opin Pediatr 6: 476-481.
-
(1994)
Curr Opin Pediatr
, vol.6
, pp. 476-481
-
-
Stanley, C.A.1
Hale, D.E.2
-
16
-
-
0028466217
-
β-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria
-
Venizelos N, IJlst L, Wanders R, Hagenfeldt L (1994) β-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria. Pediatr Res 36: 111-114.
-
(1994)
Pediatr Res
, vol.36
, pp. 111-114
-
-
Venizelos, N.1
Ijlst, L.2
Wanders, R.3
Hagenfeldt, L.4
-
17
-
-
0025128972
-
Impaired mitochondrial oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
-
Watmough NJ, Bindoff LA, Birch-Machin MA, et al (1990) Impaired mitochondrial oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. J Clin Invest 85: 177-184.
-
(1990)
J Clin Invest
, vol.85
, pp. 177-184
-
-
Watmough, N.J.1
Bindoff, L.A.2
Birch-Machin, M.A.3
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