-
1
-
-
0027488611
-
Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase
-
Abe H, Ohtake A, Yamamoto S, et al (1993) Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. Biochim Biophys Acta 1216: 304-306.
-
(1993)
Biochim Biophys Acta
, vol.1216
, pp. 304-306
-
-
Abe, H.1
Ohtake, A.2
Yamamoto, S.3
-
2
-
-
51249187265
-
The occurrence of diastereoisomers of phytanic and pristanic acids and their determination by gas-liquid chromatography
-
Ackman RG, Hansen RP (1967) The occurrence of diastereoisomers of phytanic and pristanic acids and their determination by gas-liquid chromatography. Lipids 2: 357-362.
-
(1967)
Lipids
, vol.2
, pp. 357-362
-
-
Ackman, R.G.1
Hansen, R.P.2
-
3
-
-
0022359510
-
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients
-
Amendt BA, Rhead WJ (1985) Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. J Clin Invest 76: 963-969.
-
(1985)
J Clin Invest
, vol.76
, pp. 963-969
-
-
Amendt, B.A.1
Rhead, W.J.2
-
4
-
-
0023248335
-
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients
-
Amendt BA, Greene C, Sweetman L, et al (1987) Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 79: 1303-1309.
-
(1987)
J Clin Invest
, vol.79
, pp. 1303-1309
-
-
Amendt, B.A.1
Greene, C.2
Sweetman, L.3
-
5
-
-
0026602820
-
Short-chain acyl-coenzyme a dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse
-
Amendt BA, Freneaux E, Reece C, Wood PA, Rhead WJ (1992) Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. Pediatr Res 31: 552-556.
-
(1992)
Pediatr Res
, vol.31
, pp. 552-556
-
-
Amendt, B.A.1
Freneaux, E.2
Reece, C.3
Wood, P.A.4
Rhead, W.J.5
-
6
-
-
0029881587
-
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene
-
Published erratum appears in Hum Mol Genet 1996 Sep; 5(9): 1390
-
Andresen BS, Bross P, Vianey-Saban C, et al (1996) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 5: 461-472 [Published erratum appears in Hum Mol Genet 1996 Sep; 5(9): 1390].
-
(1996)
Hum Mol Genet
, vol.5
, pp. 461-472
-
-
Andresen, B.S.1
Bross, P.2
Vianey-Saban, C.3
-
7
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen BS, Olpin SE, Poorthuis BJHM, et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.E.2
Poorthuis, B.J.H.M.3
-
8
-
-
0027295763
-
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
-
Aoyama T, Uchida Y, Kelley RI, et al (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372.
-
(1993)
Biochem Biophys Res Commun
, vol.191
, pp. 1369-1372
-
-
Aoyama, T.1
Uchida, Y.2
Kelley, R.I.3
-
9
-
-
0028229531
-
Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein
-
Aoyama T, Ueno I, Kamijo T, Hashimoto T (1994) Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem 269: 19088-19094.
-
(1994)
J Biol Chem
, vol.269
, pp. 19088-19094
-
-
Aoyama, T.1
Ueno, I.2
Kamijo, T.3
Hashimoto, T.4
-
10
-
-
0029073089
-
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients
-
Aoyama T, Souri M, Ueno I, et al (1995a) Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 57: 273-283.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 273-283
-
-
Aoyama, T.1
Souri, M.2
Ueno, I.3
-
11
-
-
0029078041
-
Purification of human very-long-chain acylcoenzyme A dehydrogenase and characterization of its deficiency in seven patients
-
Aoyama T, Souri M, Ushikubo S, et al (1995b) Purification of human very-long-chain acylcoenzyme A dehydrogenase and characterization of its deficiency in seven patients. J. Clin Invest 95: 2465-2473.
-
(1995)
J. Clin Invest
, vol.95
, pp. 2465-2473
-
-
Aoyama, T.1
Souri, M.2
Ushikubo, S.3
-
12
-
-
0023340210
-
cDNA-derived amino acid sequence of rat mitochondrial 3-oxoacyl-CoA thiolase with no transient presequence: Structural relationship with peroxisomal isozyme
-
Arakawa H, Takiguchi M, Amaya Y, Nagata S, Hayashi H, Mori M (1987) cDNA-derived amino acid sequence of rat mitochondrial 3-oxoacyl-CoA thiolase with no transient presequence: structural relationship with peroxisomal isozyme. EMBO J 6: 1361-1366.
-
(1987)
EMBO J
, vol.6
, pp. 1361-1366
-
-
Arakawa, H.1
Takiguchi, M.2
Amaya, Y.3
Nagata, S.4
Hayashi, H.5
Mori, M.6
-
13
-
-
0030748774
-
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis
-
Baerlocher KE, Steinmann B, Aguzzi A, Krahenbuhl S, Roe CR, Vianey-Saban C (1997) Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. J Inher Metab Dis 20: 427-431.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 427-431
-
-
Baerlocher, K.E.1
Steinmann, B.2
Aguzzi, A.3
Krahenbuhl, S.4
Roe, C.R.5
Vianey-Saban, C.6
-
14
-
-
0022347073
-
Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: Purification and molecular, redox, and catalytic properties
-
Beckmann JD, Frerman FE (1985) Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: purification and molecular, redox, and catalytic properties. Biochemistry 24: 3913-3921.
-
(1985)
Biochemistry
, vol.24
, pp. 3913-3921
-
-
Beckmann, J.D.1
Frerman, F.E.2
-
15
-
-
0025020848
-
Fatty acid oxidation in soluble systems of mammalian origin: The beginnings
-
Beinert H (1990) Fatty acid oxidation in soluble systems of mammalian origin: the beginnings. Prog Clin Biol Res 321: 1-22.
-
(1990)
Prog Clin Biol Res
, vol.321
, pp. 1-22
-
-
Beinert, H.1
-
16
-
-
0030041154
-
Mitochondrial shortchain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation
-
Bennett MJ, Weinberger MJ, Kobori JA, Rinaldo P, Burlina AB (1996) Mitochondrial shortchain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res 39: 185-188.
-
(1996)
Pediatr Res
, vol.39
, pp. 185-188
-
-
Bennett, M.J.1
Weinberger, M.J.2
Kobori, J.A.3
Rinaldo, P.4
Burlina, A.B.5
-
17
-
-
0021260848
-
Enhancement of long-chain acyl-CoA hydrolase activity in peroxisomes and mitochondria of rat liver by peroxisomal proliferators
-
Berge RK, Flatmark T, Osmundsen H (1984) Enhancement of long-chain acyl-CoA hydrolase activity in peroxisomes and mitochondria of rat liver by peroxisomal proliferators. Eur J Biochem 141: 637-644.
-
(1984)
Eur J Biochem
, vol.141
, pp. 637-644
-
-
Berge, R.K.1
Flatmark, T.2
Osmundsen, H.3
-
18
-
-
0027404491
-
Very long chain acyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
-
Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180: 327-329.
-
(1993)
Biochim Biophys Acta
, vol.1180
, pp. 327-329
-
-
Bertrand, C.1
Largilliere, C.2
Zabot, M.T.3
Mathieu, M.4
Vianey-Saban, C.5
-
19
-
-
0029060330
-
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency
-
Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE (1995) Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126: 910-915.
-
(1995)
J Pediatr
, vol.126
, pp. 910-915
-
-
Bhala, A.1
Willi, S.M.2
Rinaldo, P.3
Bennett, M.J.4
Schmidt-Sommerfeld, E.5
Hale, D.E.6
-
20
-
-
0019334636
-
Amino acid sequence of L-3-hydroxyacyl-CoA dehydrogenase from pig heart muscle
-
Bitar KG, Perez-Aranda A, Bradshaw RA (1980) Amino acid sequence of L-3-hydroxyacyl-CoA dehydrogenase from pig heart muscle. FEBS Lett 116: 196-198.
-
(1980)
FEBS Lett
, vol.116
, pp. 196-198
-
-
Bitar, K.G.1
Perez-Aranda, A.2
Bradshaw, R.A.3
-
21
-
-
0025694816
-
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- And hyperketotic states
-
Bonnefont JP, Specola NB, Vasault A, et al (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eurj J Pediatr 150: 80-85.
-
(1990)
Eurj J Pediatr
, vol.150
, pp. 80-85
-
-
Bonnefont, J.P.1
Specola, N.B.2
Vasault, A.3
-
22
-
-
0028956322
-
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
-
Brackett JC, Sims HF, Rinaldo P, et al (1995) Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. J. Clin Invest 95: 2076-2082.
-
(1995)
J. Clin Invest
, vol.95
, pp. 2076-2082
-
-
Brackett, J.C.1
Sims, H.F.2
Rinaldo, P.3
-
23
-
-
0028902952
-
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme
-
Bross P. Jespersen C, Jensen TG, et al (1995) Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J Biol Chem 270: 10284-10290.
-
(1995)
J Biol Chem
, vol.270
, pp. 10284-10290
-
-
Bross, P.1
Jespersen, C.2
Jensen, T.G.3
-
24
-
-
0030175496
-
Very long chain acyl-CoA dehydrogenase deficiency: Successful treatment of acute cardiomyopathy
-
Brown-Harrison MC, Nada MA, Sprecher H, et al (1996) Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58: 59-65.
-
(1996)
Biochem Mol Med
, vol.58
, pp. 59-65
-
-
Brown-Harrison, M.C.1
Nada, M.A.2
Sprecher, H.3
-
25
-
-
0026558042
-
Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
-
Carpenter K Pollitt RJ, Middleton B (1992) Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun 183: 443-448.
-
(1992)
Biochem Biophys Res Commun
, vol.183
, pp. 443-448
-
-
Carpenter, K.1
Pollitt, R.J.2
Middleton, B.3
-
26
-
-
0030664016
-
Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
-
Chace DH, Hillman SL, Van Hove JL, Naylor EW (1997) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43: 2106-2113.
-
(1997)
Clin Chem
, vol.43
, pp. 2106-2113
-
-
Chace, D.H.1
Hillman, S.L.2
Van Hove, J.L.3
Naylor, E.W.4
-
27
-
-
0028167955
-
Purification and mechanism of delta 3, delta 5-t-2,t-4-dienoyl-CoA isomerase from rat liver
-
Chen LS, Jin SJ, Tserng KY (1994) Purification and mechanism of delta 3, delta 5-t-2,t-4-dienoyl-CoA isomerase from rat liver. Biochemistry 33: 10527-10534.
-
(1994)
Biochemistry
, vol.33
, pp. 10527-10534
-
-
Chen, L.S.1
Jin, S.J.2
Tserng, K.Y.3
-
28
-
-
0021831739
-
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: Studies in cultured skin fibroblasts and peripheral mononuclear leukocytes
-
Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA (1985) Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19: 671-676.
-
(1985)
Pediatr Res
, vol.19
, pp. 671-676
-
-
Coates, P.M.1
Hale, D.E.2
Stanley, C.A.3
Corkey, B.E.4
Cortner, J.A.5
-
29
-
-
0023875592
-
Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness
-
Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC (1988) Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 81: 171-175.
-
(1988)
J Clin Invest
, vol.81
, pp. 171-175
-
-
Coates, P.M.1
Hale, D.E.2
Finocchiaro, G.3
Tanaka, K.4
Winter, S.C.5
-
30
-
-
0026543154
-
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency
-
Coates PM, Indo Y, Young D, Hale DE, Tanaka K (1982) Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 31: 34-38.
-
(1982)
Pediatr Res
, vol.31
, pp. 34-38
-
-
Coates, P.M.1
Indo, Y.2
Young, D.3
Hale, D.E.4
Tanaka, K.5
-
31
-
-
0028058999
-
Divergent sequences in the 5′ region of cDNA suggest alternative splicing as a mechanism for the generation of carnitine acetyl-transferases with different subcellular localizations
-
Corti O, DiDonato S, Finocchiaro G (1994) Divergent sequences in the 5′ region of cDNA suggest alternative splicing as a mechanism for the generation of carnitine acetyl-transferases with different subcellular localizations. Biochem J 303: 37-41.
-
(1994)
Biochem J
, vol.303
, pp. 37-41
-
-
Corti, O.1
DiDonato, S.2
Finocchiaro, G.3
-
32
-
-
9344226779
-
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase
-
Corydon MJ, Gregersen N, Lehnert W, et al (1996) Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res 39: 1059-1066.
-
(1996)
Pediatr Res
, vol.39
, pp. 1059-1066
-
-
Corydon, M.J.1
Gregersen, N.2
Lehnert, W.3
-
33
-
-
0032557512
-
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria
-
Corydon TJ, Bross P, Jensen TG, et al (1998) Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. J Biol Chem 273: 13065-13071.
-
(1998)
J Biol Chem
, vol.273
, pp. 13065-13071
-
-
Corydon, T.J.1
Bross, P.2
Jensen, T.G.3
-
34
-
-
0001481670
-
On the mechanism of dehydrogenation of fatty acyl derivatives of coenzyme A II. the electron-transferring flavoprotein
-
Crane DI, Beinert H (1956) On the mechanism of dehydrogenation of fatty acyl derivatives of coenzyme A II. The electron-transferring flavoprotein. J Biol Chem 218: 717-731.
-
(1956)
J Biol Chem
, vol.218
, pp. 717-731
-
-
Crane, D.I.1
Beinert, H.2
-
35
-
-
0028891743
-
Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency
-
Dawson DB, Waber L, Hale DE, Bennett MJ (1995) Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126: 69-71.
-
(1995)
J Pediatr
, vol.126
, pp. 69-71
-
-
Dawson, D.B.1
Waber, L.2
Hale, D.E.3
Bennett, M.J.4
-
36
-
-
0023720123
-
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities
-
Demaugre F, Bonnefont JP, Mitchell G, et al (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res 24: 308-311.
-
(1988)
Pediatr Res
, vol.24
, pp. 308-311
-
-
Demaugre, F.1
Bonnefont, J.P.2
Mitchell, G.3
-
37
-
-
0025906746
-
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
-
Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864.
-
(1991)
J Clin Invest
, vol.87
, pp. 859-864
-
-
Demaugre, F.1
Bonnefont, J.P.2
Colonna, M.3
Cepanec, C.4
Leroux, J.P.5
Saudubray, J.M.6
-
38
-
-
0024355120
-
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy
-
DiDonato S, Gellera C, Peluchetti D, et al (1989) Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy. Ann Neurol 25: 479-484.
-
(1989)
Ann Neurol
, vol.25
, pp. 479-484
-
-
DiDonato, S.1
Gellera, C.2
Peluchetti, D.3
-
39
-
-
0015800677
-
Muscle carnitine palmitoyltransferase deficiency and myoglobinuria
-
DiMauro S, DiMauro PM (1973) Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 182: 929-931.
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
DiMauro, S.1
DiMauro, P.M.2
-
40
-
-
0029847961
-
Hypoparathyroidism in mitochondrial trifunctional protein deficiency
-
Dionisi-Vici C, Garavaglia B, Burlina AB, et al (1996) Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129: 159-162.
-
(1996)
J Pediatr
, vol.129
, pp. 159-162
-
-
Dionisi-Vici, C.1
Garavaglia, B.2
Burlina, A.B.3
-
41
-
-
0019949469
-
Purification by affinity chromatography of 2,4-dienoyl-CoA reductases from bovine liver and Escherichia coli
-
Dommes V, Luster W, Cvetanovic M, Kunau WH (1982) Purification by affinity chromatography of 2,4-dienoyl-CoA reductases from bovine liver and Escherichia coli. Eur J Biochem 125: 335-341.
-
(1982)
Eur J Biochem
, vol.125
, pp. 335-341
-
-
Dommes, V.1
Luster, W.2
Cvetanovic, M.3
Kunau, W.H.4
-
42
-
-
0026531409
-
Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: The effect of oral riboflavin supplementation
-
Duran M, Cleutjens CB, Ketting D, et al (1992) Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation. Pediatr Res 31: 39-42.
-
(1992)
Pediatr Res
, vol.31
, pp. 39-42
-
-
Duran, M.1
Cleutjens, C.B.2
Ketting, D.3
-
43
-
-
0020481368
-
The existence of an inner-membrane-bound, long acylchain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria
-
El-Fakhri M, Middleton B (1982) The existence of an inner-membrane-bound, long acylchain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria. Biochim Biophys Acta 713: 270-279.
-
(1982)
Biochim Biophys Acta
, vol.713
, pp. 270-279
-
-
El-Fakhri, M.1
Middleton, B.2
-
44
-
-
0025148166
-
Purification and characterization of bovine liver 3-cis-2-trans-enoyl-CoA isomerase
-
Euler-Bertram S, Stoffel W (1990) Purification and characterization of bovine liver 3-cis-2-trans-enoyl-CoA isomerase. Biol Chem Hoppe Seyler 371: 603-610.
-
(1990)
Biol Chem Hoppe Seyler
, vol.371
, pp. 603-610
-
-
Euler-Bertram, S.1
Stoffel, W.2
-
45
-
-
0031594712
-
Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular characterization
-
Filppula SA, Yagi AI, Kilpelainen SH, et al (1998) Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular characterization. J Biol Chem 273: 349-355.
-
(1998)
J Biol Chem
, vol.273
, pp. 349-355
-
-
Filppula, S.A.1
Yagi, A.I.2
Kilpelainen, S.H.3
-
46
-
-
0029048150
-
Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase
-
FitzPatrick DR, Germain-Lee E, Valle D (1995) Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. Genomics 27: 457-466.
-
(1995)
Genomics
, vol.27
, pp. 457-466
-
-
FitzPatrick, D.R.1
Germain-Lee, E.2
Valle, D.3
-
47
-
-
0017350345
-
Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues
-
Fong JC, Schulz H (1977) Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues. J Biol Chem 252: 542-547.
-
(1977)
J Biol Chem
, vol.252
, pp. 542-547
-
-
Fong, J.C.1
Schulz, H.2
-
48
-
-
0021943592
-
Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts
-
Frerman FE, Goodman SI (1985) Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem Med 33: 38-44.
-
(1985)
Biochem Med
, vol.33
, pp. 38-44
-
-
Frerman, F.E.1
Goodman, S.I.2
-
49
-
-
0024315375
-
Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase
-
Fukao T, Kamijo K, Osumi T, et al (1989) Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase. J Biochem (Tokyo) 106: 197-204.
-
(1989)
J Biochem (Tokyo)
, vol.106
, pp. 197-204
-
-
Fukao, T.1
Kamijo, K.2
Osumi, T.3
-
50
-
-
0025602099
-
Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency
-
Fukao T, Yamaguchi S, Kano M, et al (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J. Clin Invest 86: 2086-2092.
-
(1990)
J. Clin Invest
, vol.86
, pp. 2086-2092
-
-
Fukao, T.1
Yamaguchi, S.2
Kano, M.3
-
51
-
-
0019076516
-
Properties of mitochondria and peroxisomal enoyl-CoA hydratases from rat liver
-
Furuta S, Miyazawa S, Osumi T, Hashimoto T, Ui N (1980) Properties of mitochondria and peroxisomal enoyl-CoA hydratases from rat liver. J. Biochem (Tokyo) 88: 1059-1070.
-
(1980)
J. Biochem (Tokyo)
, vol.88
, pp. 1059-1070
-
-
Furuta, S.1
Miyazawa, S.2
Osumi, T.3
Hashimoto, T.4
Ui, N.5
-
52
-
-
0019742255
-
Purification and properties of rat liver acyl-CoA dehydrogenases and electron transfer flavoprotein
-
Furuta S, Miyazawa S, Hashimoto T (1981) Purification and properties of rat liver acyl-CoA dehydrogenases and electron transfer flavoprotein. J Biochem (Tokyo) 90: 1739-1750.
-
(1981)
J Biochem (Tokyo)
, vol.90
, pp. 1739-1750
-
-
Furuta, S.1
Miyazawa, S.2
Hashimoto, T.3
-
53
-
-
0020540868
-
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet
-
Glasgow AM, Engel AG, Bier DM, et al (1983) Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res 17: 319-326.
-
(1983)
Pediatr Res
, vol.17
, pp. 319-326
-
-
Glasgow, A.M.1
Engel, A.G.2
Bier, D.M.3
-
54
-
-
0029084073
-
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
-
Goodman SI, Kratz LE, DiGiulio KA, et al (1995) Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 4: 1493-1498.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1493-1498
-
-
Goodman, S.I.1
Kratz, L.E.2
DiGiulio, K.A.3
-
55
-
-
0025808797
-
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli
-
Gregersen N, Andresen BS, Bross P, et al (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. Hum Genet 86: 545-551.
-
(1991)
Hum Genet
, vol.86
, pp. 545-551
-
-
Gregersen, N.1
Andresen, B.S.2
Bross, P.3
-
56
-
-
6844258223
-
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C → T, is present at an unexpectedly high frequency in the general population, as was the case for 625G → A, together conferring susceptibility to ethylmalonic aciduria
-
Gregersen N, Winter VS, Corydon MJ, et al (1998) Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C → T, is present at an unexpectedly high frequency in the general population, as was the case for 625G → A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 7: 619-627.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 619-627
-
-
Gregersen, N.1
Winter, V.S.2
Corydon, M.J.3
-
57
-
-
0027166223
-
The existence of two mitochondrial isoforms of 2,4-dienoyl-CoA reductase in the rat
-
Hakkola EH, Hiltunen JK (1993) The existence of two mitochondrial isoforms of 2,4-dienoyl-CoA reductase in the rat. Eur J Biochem 215: 199-204.
-
(1993)
Eur J Biochem
, vol.215
, pp. 199-204
-
-
Hakkola, E.H.1
Hiltunen, J.K.2
-
58
-
-
0021873302
-
Long-chain acyl coenzyme A dehydrogenase deficiency: An inherited cause of nonketonic hypoglycemia
-
Hale DE, Batshaw ML, Coates PM, et al (1985) Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketonic hypoglycemia. Pediatr Res 19: 666-671.
-
(1985)
Pediatr Res
, vol.19
, pp. 666-671
-
-
Hale, D.E.1
Batshaw, M.L.2
Coates, P.M.3
-
60
-
-
0024382885
-
Assay of L-3-hydroxyacyl-coenzyme A dehydrogenase with substrates of different chain lengths
-
He XY, Yang SY, Schulz H (1989) Assay of L-3-hydroxyacyl-coenzyme A dehydrogenase with substrates of different chain lengths. Anal Biochem 180: 105-109.
-
(1989)
Anal Biochem
, vol.180
, pp. 105-109
-
-
He, X.Y.1
Yang, S.Y.2
Schulz, H.3
-
61
-
-
0028970515
-
Peroxisomes contain delta 3,5, delta 2,4-dienoyl-CoA isomerase and thus possess all enzymes required for the beta-oxidation of unsaturated fatty acids by a novel reductase-dependent pathway
-
He XY, Shoukry K, Chu C, Yang J, Sprecher H, Schulz H (1995) Peroxisomes contain delta 3,5, delta 2,4-dienoyl-CoA isomerase and thus possess all enzymes required for the beta-oxidation of unsaturated fatty acids by a novel reductase-dependent pathway. Biochem Biophys Res Commun 215: 15-22.
-
(1995)
Biochem Biophys Res Commun
, vol.215
, pp. 15-22
-
-
He, X.Y.1
Shoukry, K.2
Chu, C.3
Yang, J.4
Sprecher, H.5
Schulz, H.6
-
62
-
-
0025322632
-
cDNA cloning of rat liver 2,4-dienoyl-CoA reductase
-
Hirose A, Kamijo K, Osumi T, Hashimoto T, Mizugaki M (1990) cDNA cloning of rat liver 2,4-dienoyl-CoA reductase Biochim Biophys Acta 1049: 346-349.
-
(1990)
Biochim Biophys Acta
, vol.1049
, pp. 346-349
-
-
Hirose, A.1
Kamijo, K.2
Osumi, T.3
Hashimoto, T.4
Mizugaki, M.5
-
63
-
-
0032531101
-
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
-
Ibdah JA, Tein I, Dionisi-Vici C, et al (1998) Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 102: 1193-1199.
-
(1998)
J Clin Invest
, vol.102
, pp. 1193-1199
-
-
Ibdah, J.A.1
Tein, I.2
Dionisi-Vici, C.3
-
64
-
-
0027266938
-
A simple spectrophotometric assay for long-chain acyl-Coa dehydrogenase activity measurements in human skin fibroblasts
-
IJlst L, Wanders RJ (1993a) A simple spectrophotometric assay for long-chain acyl-Coa dehydrogenase activity measurements in human skin fibroblasts. Ann Clin Biochem 30: 293-297.
-
(1993)
Ann Clin Biochem
, vol.30
, pp. 293-297
-
-
IJlst, L.1
Wanders, R.J.2
-
65
-
-
0027326240
-
A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: Potential for pre- And postnatal diagnosis
-
IJlst L, Wanders RJ (1993b) A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis. J Inher Metab Dis 16: 568-570.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 568-570
-
-
IJlst, L.1
Wanders, R.J.2
-
66
-
-
0028597508
-
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
-
IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215: 347-350.
-
(1994)
Biochim Biophys Acta
, vol.1215
, pp. 347-350
-
-
IJlst, L.1
Wanders, R.J.2
Ushikubo, S.3
Kamijo, T.4
Hashimoto, T.5
-
67
-
-
0029835610
-
Common missense mutation G1528C in long-chain 3-hydroxacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene
-
IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ (1996) Common missense mutation G1528C in long-chain 3-hydroxacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 98: 1028-1033.
-
(1996)
J Clin Invest
, vol.98
, pp. 1028-1033
-
-
IJlst, L.1
Ruiter, J.P.2
Hoovers, J.M.3
Jakobs, M.E.4
Wanders, R.J.5
-
68
-
-
0021099782
-
Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria
-
Ikeda Y, Tanaka K (1983a) Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria. J Biol Chem 258: 9477-9487.
-
(1983)
J Biol Chem
, vol.258
, pp. 9477-9487
-
-
Ikeda, Y.1
Tanaka, K.2
-
69
-
-
0021111508
-
Purification and characterization of isovaleryl coenzyme A dehydrogenases from rat liver mitochondria
-
Ikeda Y, Tanaka K (1983b) Purification and characterization of isovaleryl coenzyme A dehydrogenases from rat liver mitochondria. J Biol Chem 258: 1077-1085.
-
(1983)
J Biol Chem
, vol.258
, pp. 1077-1085
-
-
Ikeda, Y.1
Tanaka, K.2
-
70
-
-
0021111556
-
Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase
-
Ikeda Y, Dabrowski C, Tanaka K (1983) Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase. J Biol Chem 258: 1066-1076.
-
(1983)
J Biol Chem
, vol.258
, pp. 1066-1076
-
-
Ikeda, Y.1
Dabrowski, C.2
Tanaka, K.3
-
71
-
-
0021970335
-
Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- And apoenzymes and conversion of the apoenzyme to the holoenzyme
-
Ikeda Y, Okamura-Ikeda K, Tanaka K (1985) Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme. J Biol Chem 260: 1311-1325.
-
(1985)
J Biol Chem
, vol.260
, pp. 1311-1325
-
-
Ikeda, Y.1
Okamura-Ikeda, K.2
Tanaka, K.3
-
72
-
-
0025913135
-
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency
-
Indo Y, Coates PM, Hale DE, Tanaka K (1991a) Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 30: 211-215.
-
(1991)
Pediatr Res
, vol.30
, pp. 211-215
-
-
Indo, Y.1
Coates, P.M.2
Hale, D.E.3
Tanaka, K.4
-
73
-
-
0025991444
-
Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2
-
Published erratum appears in Genomics 1992 Mar; 12(3): 626
-
Indo Y, Yang-Feng T, Glassberg R, Tanaka K (1991b) Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. Genomics 11: 609-620. [Published erratum appears in Genomics 1992 Mar; 12(3): 626].
-
(1991)
Genomics
, vol.11
, pp. 609-620
-
-
Indo, Y.1
Yang-Feng, T.2
Glassberg, R.3
Tanaka, K.4
-
74
-
-
0026518372
-
Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acylcoenzyme A dehydrogenase
-
Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T (1992) Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acylcoenzyme A dehydrogenase. J Biol Chem 267: 1027-1033.
-
(1992)
J Biol Chem
, vol.267
, pp. 1027-1033
-
-
Izai, K.1
Uchida, Y.2
Orii, T.3
Yamamoto, S.4
Hashimoto, T.5
-
75
-
-
0026488067
-
Combined enzyme defect of mitochondrial fatty acid oxidation
-
Jackson S, Kler RS, Bartlett K, et al (1992) Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 90: 1219-1225.
-
(1992)
J Clin Invest
, vol.90
, pp. 1219-1225
-
-
Jackson, S.1
Kler, R.S.2
Bartlett, K.3
-
76
-
-
0027426259
-
Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes
-
Kamijo T, Aoyama T, Miyazaki J, Hashimoto T (1993) Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes. J Biol Chem 268: 26452-26460.
-
(1993)
J Biol Chem
, vol.268
, pp. 26452-26460
-
-
Kamijo, T.1
Aoyama, T.2
Miyazaki, J.3
Hashimoto, T.4
-
77
-
-
0028223596
-
Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein
-
Kamijo T, Aoyama T, Komiyama A, Hashimoto T (1994) Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein. Biochem Biophys Res Commun 199: 818-825.
-
(1994)
Biochem Biophys Res Commun
, vol.199
, pp. 818-825
-
-
Kamijo, T.1
Aoyama, T.2
Komiyama, A.3
Hashimoto, T.4
-
78
-
-
0030779165
-
Medium chain 3-ketoyacyl-coenzyme A thiolase deficiency: A new disorder of mitochondrial fatty acid beta-oxidation
-
Kamijo T, Indo Y, Souri M, et al (1997) Medium chain 3-ketoyacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res 42: 569-576.
-
(1997)
Pediatr Res
, vol.42
, pp. 569-576
-
-
Kamijo, T.1
Indo, Y.2
Souri, M.3
-
79
-
-
0027425558
-
Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase
-
Kanazawa M, Ohtake A, Abe H, et al (1993) Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. Enzyme Protein 47: 9-13.
-
(1993)
Enzyme Protein
, vol.47
, pp. 9-13
-
-
Kanazawa, M.1
Ohtake, A.2
Abe, H.3
-
80
-
-
0026349115
-
Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene
-
Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T (1991) Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. Gene 109: 285-290.
-
(1991)
Gene
, vol.109
, pp. 285-290
-
-
Kano, M.1
Fukao, T.2
Yamaguchi, S.3
Orii, T.4
Osumi, T.5
Hashimoto, T.6
-
81
-
-
0344221869
-
Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue
-
Kelly DP, Kim JJ, Billadello JJ, Hainline BE, Chu TW, Strauss AW (1987) Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. Proc Natl Acad Sci USA 84: 4086-4072.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 4086-14072
-
-
Kelly, D.P.1
Kim, J.J.2
Billadello, J.J.3
Hainline, B.E.4
Chu, T.W.5
Strauss, A.W.6
-
82
-
-
0025695583
-
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
-
Kelly DP, Whelan AJ, Ogden ML, et al (1990) Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc Natl Acad Sci USA 87: 9236-9240.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 9236-9240
-
-
Kelly, D.P.1
Whelan, A.J.2
Ogden, M.L.3
-
83
-
-
0025354303
-
Occurrence of a long-chain delta 3, delta 2-enoyl-CoA isomerase in rat liver
-
Kilponen JM, Palosaari PM, Hiltunen JK (1990) Occurrence of a long-chain delta 3, delta 2-enoyl-CoA isomerase in rat liver. Biochem J 269: 223-226.
-
(1990)
Biochem J
, vol.269
, pp. 223-226
-
-
Kilponen, J.M.1
Palosaari, P.M.2
Hiltunen, J.K.3
-
84
-
-
0026343898
-
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation
-
Kler RS, Jackson S, Bartlett K, et al (1991) Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J Biol Chem 266: 22932-22938.
-
(1991)
J Biol Chem
, vol.266
, pp. 22932-22938
-
-
Kler, R.S.1
Jackson, S.2
Bartlett, K.3
-
85
-
-
0029880653
-
Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver
-
Kobayashi A, Jiang LL, Hashimoto T (1996) Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver. J Biochem (Tokyo) 119: 775-782.
-
(1996)
J Biochem (Tokyo)
, vol.119
, pp. 775-782
-
-
Kobayashi, A.1
Jiang, L.L.2
Hashimoto, T.3
-
86
-
-
0028577805
-
Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase
-
Koivuranta KT, Hakkola EH, Hiltunen JK (1994) Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase. Biochem J 304: 787-792.
-
(1994)
Biochem J
, vol.304
, pp. 787-792
-
-
Koivuranta, K.T.1
Hakkola, E.H.2
Hiltunen, J.K.3
-
87
-
-
0020363432
-
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase
-
Kolvrää S, Gregersen N, Christensen E, Hobolth N (1982) In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta 126: 53-67.
-
(1982)
Clin Chim Acta
, vol.126
, pp. 53-67
-
-
Kolvrää, S.1
Gregersen, N.2
Christensen, E.3
Hobolth, N.4
-
88
-
-
0018117272
-
Degradation of unsaturated fatty acids. Identification of intermediates in the degradation of cis-4-decenoyl-CoA by extracts of beef-liver mitochondria
-
Kunau WH, Dommes P (1978) Degradation of unsaturated fatty acids. Identification of intermediates in the degradation of cis-4-decenoyl-CoA by extracts of beef-liver mitochondria. Eur J Biochem 91: 533-544.
-
(1978)
Eur J Biochem
, vol.91
, pp. 533-544
-
-
Kunau, W.H.1
Dommes, P.2
-
89
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
Lafolla AK Thompson RJ, Jr, Roe CR (1994) Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124: 409-415.
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Lafolla, A.K.1
Thompson R.J., Jr.2
Roe, C.R.3
-
90
-
-
0029099474
-
Mitochondrial very long chain acyl-CoA dehydrogenases deficiency - A new disorder of fatty acid oxidation
-
Largillière C, Vianey-Saban C, Fontaine M, Bertrand C, Kacet N, Farriaux JP (1995) Mitochondrial very long chain acyl-CoA dehydrogenases deficiency - a new disorder of fatty acid oxidation. Arch Dis Child Fetal Neonatal Ed 73: F103-105.
-
(1995)
Arch Dis Child Fetal Neonatal Ed
, vol.73
-
-
Largillière, C.1
Vianey-Saban, C.2
Fontaine, M.3
Bertrand, C.4
Kacet, N.5
Farriaux, J.P.6
-
91
-
-
0025374115
-
An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion
-
Lehman TC, Hale DE, Bhala A, Thorpe C (1990) An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion. Anal Biochem 186: 280-284.
-
(1990)
Anal Biochem
, vol.186
, pp. 280-284
-
-
Lehman, T.C.1
Hale, D.E.2
Bhala, A.3
Thorpe, C.4
-
92
-
-
0027244111
-
Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria
-
Luo MJ, He XY, Sprecher H, Schulz (1993) Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria. Arch Biochem Biophys 304: 266-271.
-
(1993)
Arch Biochem Biophys
, vol.304
, pp. 266-271
-
-
Luo, M.J.1
He, X.Y.2
Sprecher, H.3
Schulz4
-
93
-
-
0028078020
-
Delta 3,5, delta 2,4-dienoyl-CoA isomerase from rat liver mitochondria. Purification and characterization of a new enzyme involved in the beta-oxidation of unsaturated fatty acids
-
Luo MJ, Smeland TE, Shoukry K, Schulz H (1994) Delta 3,5, delta 2,4-dienoyl-CoA isomerase from rat liver mitochondria. Purification and characterization of a new enzyme involved in the beta-oxidation of unsaturated fatty acids. J Biol Chem 269: 2384-2388.
-
(1994)
J Biol Chem
, vol.269
, pp. 2384-2388
-
-
Luo, M.J.1
Smeland, T.E.2
Shoukry, K.3
Schulz, H.4
-
94
-
-
0029153738
-
Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: Purification and characterization of a novel enzyme of isoleucine metabolism
-
Luo MJ, Mao LF, Schulz H (1995) Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purification and characterization of a novel enzyme of isoleucine metabolism. Arch Biochem Biophys 321: 214-220.
-
(1995)
Arch Biochem Biophys
, vol.321
, pp. 214-220
-
-
Luo, M.J.1
Mao, L.F.2
Schulz, H.3
-
95
-
-
0025343588
-
3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts
-
3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 58-68
-
-
Manning, N.J.1
Olpin, S.E.2
Pollitt, R.J.3
Webley, J.4
-
96
-
-
0028982779
-
Mitochondrial beta-oxidation of 2-methyl fatty acids in rat liver
-
Mao LF, Chu C, Luo MJ, Simon A, Abbas AS, Schulz H (1995) Mitochondrial beta-oxidation of 2-methyl fatty acids in rat liver. Arch Biochem Biophys 321: 221-228.
-
(1995)
Arch Biochem Biophys
, vol.321
, pp. 221-228
-
-
Mao, L.F.1
Chu, C.2
Luo, M.J.3
Simon, A.4
Abbas, A.S.5
Schulz, H.6
-
97
-
-
0022974709
-
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1
-
Matsubara Y, Kraus JP, Yang-Feng TL, et al (1986) Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci USA 83: 6543-6547.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 6543-6547
-
-
Matsubara, Y.1
Kraus, J.P.2
Yang-Feng, T.L.3
-
98
-
-
0024467463
-
Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acylcoenzyme A, and isovaleryl-coenzyme a dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family
-
Matsubara Y, Indo Y, Naito E, et al (1989) Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acylcoenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family. J Biol Chem 264: 16321-16331.
-
(1989)
J Biol Chem
, vol.264
, pp. 16321-16331
-
-
Matsubara, Y.1
Indo, Y.2
Naito, E.3
-
99
-
-
0029044651
-
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria
-
Mayatepek E, Wanders RJ, Becker M, Bremer HJ, Hoffmann GF (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, E.1
Wanders, R.J.2
Becker, M.3
Bremer, H.J.4
Hoffmann, G.F.5
-
100
-
-
0029942525
-
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course
-
Merinero B, Perez-Cerda C, Garcia MJ, et al (1996) Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course. J Inher Metab Dis 19: 173-176.
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 173-176
-
-
Merinero, B.1
Perez-Cerda, C.2
Garcia, M.J.3
-
101
-
-
0025129387
-
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inher Metab Dis 13: 321-324.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
102
-
-
0024444571
-
Molecular cloning and sequence analysis of the cDNA for rat mitochondrial enoyl-CoA hydratase. Structural and evolutionary relationships linked to the bifunctional enzyme of the peroxisomal beta-oxidation system
-
Minami-Ishii N, Taketani S, Osumi T, Hashimoto T (1989) Molecular cloning and sequence analysis of the cDNA for rat mitochondrial enoyl-CoA hydratase. Structural and evolutionary relationships linked to the bifunctional enzyme of the peroxisomal beta-oxidation system. Eur J Biochem 185: 73-78.
-
(1989)
Eur J Biochem
, vol.185
, pp. 73-78
-
-
Minami-Ishii, N.1
Taketani, S.2
Osumi, T.3
Hashimoto, T.4
-
103
-
-
0023048911
-
Molecular cloning of cDNA for rat mitochondrial 3-oxoacyl-CoA thiolase
-
Miura S, Takiguchi M, Matsue H, et al (1986) Molecular cloning of cDNA for rat mitochondrial 3-oxoacyl-CoA thiolase. Eur J Biochem 154: 479-484.
-
(1986)
Eur J Biochem
, vol.154
, pp. 479-484
-
-
Miura, S.1
Takiguchi, M.2
Matsue, H.3
-
104
-
-
0018977041
-
The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes
-
Miyazawa S, Osumi T, Hashimoto T (1980) The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes. Eur J Biochem 103: 589-596.
-
(1980)
Eur J Biochem
, vol.103
, pp. 589-596
-
-
Miyazawa, S.1
Osumi, T.2
Hashimoto, T.3
-
105
-
-
0030808289
-
Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease
-
Mize CE, Waber LJ, Anderson T, Bennett MJ (1997) Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease. J Inher Metab Dis 20: 407-410.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 407-410
-
-
Mize, C.E.1
Waber, L.J.2
Anderson, T.3
Bennett, M.J.4
-
106
-
-
0026200272
-
Mitochondrial 3,2-trans-enoyl-CoA isomerase. Purification, cloning, expression, and mitochondrial import of the key enzyme of unsaturated fatty acid beta-oxidation
-
Muller-Newen G, Stoffel W (1991) Mitochondrial 3,2-trans-enoyl-CoA isomerase. Purification, cloning, expression, and mitochondrial import of the key enzyme of unsaturated fatty acid beta-oxidation. Biol Chem Hoppe Seyler 372: 613-624.
-
(1991)
Biol Chem Hoppe Seyler
, vol.372
, pp. 613-624
-
-
Muller-Newen, G.1
Stoffel, W.2
-
107
-
-
0028950214
-
Evidence for intermediate channeling in mitochondrial beta-oxidation
-
Nada MA, Rhead WJ, Sprecher H, Schulz H, Roe CR (1995) Evidence for intermediate channeling in mitochondrial beta-oxidation. J Biol Chem 270: 530-535.
-
(1995)
J Biol Chem
, vol.270
, pp. 530-535
-
-
Nada, M.A.1
Rhead, W.J.2
Sprecher, H.3
Schulz, H.4
Roe, C.R.5
-
108
-
-
0024599589
-
Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency
-
Naito E, Ozasa H, Ikeda Y, Tanaka K (1989) Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 83: 1605-1613.
-
(1989)
J Clin Invest
, vol.83
, pp. 1605-1613
-
-
Naito, E.1
Ozasa, H.2
Ikeda, Y.3
Tanaka, K.4
-
109
-
-
0025325156
-
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency
-
Naito E, Indo Y, Tanaka K (1990) Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 85: 1575-1582.
-
(1990)
J Clin Invest
, vol.85
, pp. 1575-1582
-
-
Naito, E.1
Indo, Y.2
Tanaka, K.3
-
110
-
-
0026662557
-
A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS
-
Niezen-Koning KE, Wanders RJ, Nagel GT, IJlst L, Heymans HS (1992) A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS. Biochim Biophys Acta 1180: 28-32.
-
(1992)
Biochim Biophys Acta
, vol.1180
, pp. 28-32
-
-
Niezen-Koning, K.E.1
Wanders, R.J.2
Nagel, G.T.3
Ijlst, L.4
Heymans, H.S.5
-
111
-
-
0028088246
-
Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-Coa as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase
-
Niezen-Koning KE, Wanders RJ, Nagel GT, Sewell AC, Heymans HS (1994) Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase. Clin Chim Acta 229: 99-106.
-
(1994)
Clin Chim Acta
, vol.229
, pp. 99-106
-
-
Niezen-Koning, K.E.1
Wanders, R.J.2
Nagel, G.T.3
Sewell, A.C.4
Heymans, H.S.5
-
112
-
-
0015919670
-
L-3-Hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties
-
Noyes BE, Bradshaw RA (1973) L-3-Hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties. J Biol Chem 248: 3052-3059.
-
(1973)
J Biol Chem
, vol.248
, pp. 3052-3059
-
-
Noyes, B.E.1
Bradshaw, R.A.2
-
113
-
-
0028221809
-
Very long-chain acyl coenzyme a dehydrogenase deficiency presenting with exercise-induced myoglobinuria
-
Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM (1994) Very long-chain acyl coenzyme a dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44: 467-473.
-
(1994)
Neurology
, vol.44
, pp. 467-473
-
-
Ogilvie, I.1
Pourfarzam, M.2
Jackson, S.3
Stockdale, C.4
Bartlett, K.5
Turnbull, D.M.6
-
116
-
-
0028821792
-
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders
-
Onkenhout W, Venizelos V, van der Poel PF, van den Heuvel MP, Poorthuis BJ (1995) Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders Clin Chem 41: 1467-1474.
-
(1995)
Clin Chem
, vol.41
, pp. 1467-1474
-
-
Onkenhout, W.1
Venizelos, V.2
Van Der Poel, P.F.3
Van Den Heuvel, M.P.4
Poorthuis, B.J.5
-
117
-
-
0030856404
-
Genomic and mutational analysis of the mitochondrial protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
-
Orii KE, Aoyama T, Wakui K, et al (1997) Genomic and mutational analysis of the mitochondrial protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Mol Genet 6: 1215-1224.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1215-1224
-
-
Orii, K.E.1
Aoyama, T.2
Wakui, K.3
-
118
-
-
0017710104
-
A spectrophotometric procedure for rapid and sensitive measurements of beta-oxidation. Demonstration of factors that can be rate-limiting for beta-oxidation
-
Osmundsen H, Bremer J (1977) A spectrophotometric procedure for rapid and sensitive measurements of beta-oxidation. Demonstration of factors that can be rate-limiting for beta-oxidation. Biochem J 164: 621-633.
-
(1977)
Biochem J
, vol.164
, pp. 621-633
-
-
Osmundsen, H.1
Bremer, J.2
-
119
-
-
0019048796
-
Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver
-
Osumi T, Hashimoto T (1980) Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver. Arch Biochem Biophys 203: 372-383.
-
(1980)
Arch Biochem Biophys
, vol.203
, pp. 372-383
-
-
Osumi, T.1
Hashimoto, T.2
-
120
-
-
0025230768
-
Delta 3,delta 2-enoyl-CoA isomerases. Characterization of the mitochondrial isoenzyme in the rat
-
Palosaari PM, Kilponen JM, Sormunen RT, Hassinen IE, Hiltunen JK (1990) Delta 3,delta 2-enoyl-CoA isomerases. Characterization of the mitochondrial isoenzyme in the rat. J Biol Chem 265: 3347-3353.
-
(1990)
J Biol Chem
, vol.265
, pp. 3347-3353
-
-
Palosaari, P.M.1
Kilponen, J.M.2
Sormunen, R.T.3
Hassinen, I.E.4
Hiltunen, J.K.5
-
121
-
-
0025769126
-
Amino acid sequence similarities of the mitochondrial short chain delta 3, delta 2-enoyl-CoA isomerase and peroxisomal multifunctional delta 3, delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenases enzyme in rat liver. the proposed occurrence of isomerization and hydration in the same catalytic domain of the multifunctional enzyme
-
Palosaari PM, Vihinen M, Mantsala PI, Alexson SE, Pihlajaniemi T, Hiltunen JK (1991) Amino acid sequence similarities of the mitochondrial short chain delta 3, delta 2-enoyl-CoA isomerase and peroxisomal multifunctional delta 3, delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenases enzyme in rat liver. The proposed occurrence of isomerization and hydration in the same catalytic domain of the multifunctional enzyme. J Biol Chem 266: 10750-10753.
-
(1991)
J Biol Chem
, vol.266
, pp. 10750-10753
-
-
Palosaari, P.M.1
Vihinen, M.2
Mantsala, P.I.3
Alexson, S.E.4
Pihlajaniemi, T.5
Hiltunen, J.K.6
-
122
-
-
0028912930
-
Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency
-
Patel JS, Leonard JV (1995) Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency. J Inher Metab Dis 18: 98-99.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 98-99
-
-
Patel, J.S.1
Leonard, J.V.2
-
123
-
-
0029090038
-
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postomortem bile
-
Rashed MS, Ozand PT, Bennett MJ, et al (1995a) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postomortem bile. Clin Chem 41: 1109-1114.
-
(1995)
Clin Chem
, vol.41
, pp. 1109-1114
-
-
Rashed, M.S.1
Ozand, P.T.2
Bennett, M.J.3
-
124
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
-
Rashed MS, Ozand PT, Bucknall MP, Little D (1995b) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38: 324-331.
-
(1995)
Pediatr Res
, vol.38
, pp. 324-331
-
-
Rashed, M.S.1
Ozand, P.T.2
Bucknall, M.P.3
Little, D.4
-
125
-
-
0030751763
-
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
-
Rashed MS, Bucknall MP, Little D, et al (1997) Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43: 1129-1141.
-
(1997)
Clin Chem
, vol.43
, pp. 1129-1141
-
-
Rashed, M.S.1
Bucknall, M.P.2
Little, D.3
-
127
-
-
7144263747
-
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
-
Ribes A, Riudor E, Garavaglia B, et al (1998) Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 157: 317-320.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 317-320
-
-
Ribes, A.1
Riudor, E.2
Garavaglia, B.3
-
128
-
-
0024209336
-
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine
-
Published erratum appears in N Engl J Med 1989 May 4; 320(18): 1227
-
Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K (1988) Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine N Engl J Med 319: 1308-1313. [Published erratum appears in N Engl J Med 1989 May 4; 320(18): 1227].
-
(1988)
N Engl J Med
, vol.319
, pp. 1308-1313
-
-
Rinaldo, P.1
O'Shea, J.J.2
Coates, P.M.3
Hale, D.E.4
Stanley, C.A.5
Tanaka, K.6
-
129
-
-
0025242644
-
Deficiency of long-chain 3-hydroxyacyl-Coa dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
-
Rocchiccioli F, Wanders RJ, Aubourg P, et al (1990) Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood Pediatr Res 28: 657-662.
-
(1990)
Pediatr Res
, vol.28
, pp. 657-662
-
-
Rocchiccioli, F.1
Wanders, R.J.2
Aubourg, P.3
-
130
-
-
0028569536
-
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family
-
Rozen R, Vockley J, Zhou L, et al (1994) Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family Genomics 24: 280-287.
-
(1994)
Genomics
, vol.24
, pp. 280-287
-
-
Rozen, R.1
Vockley, J.2
Zhou, L.3
-
131
-
-
0017691203
-
A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway
-
Ruzicka FJ, Beinert H (1977) A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway. J Biol Chem 252: 8440-8445.
-
(1977)
J Biol Chem
, vol.252
, pp. 8440-8445
-
-
Ruzicka, F.J.1
Beinert, H.2
-
132
-
-
0029907842
-
Trifunctional enzyme deficiency: Adult presentation of a usually fatal beta-oxidation defect
-
Schaefer J, Jackson S, Dick DJ, Turnbull DM (1996) Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect. Ann Neurol 40: 597-602.
-
(1996)
Ann Neurol
, vol.40
, pp. 597-602
-
-
Schaefer, J.1
Jackson, S.2
Dick, D.J.3
Turnbull, D.M.4
-
133
-
-
0027286040
-
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method
-
Schmidt-Sommerfeld E, Penn D, Duran M, Bennett MJ, Santer R, Stanley CA (1993) Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method. J Pediatr 122: 708-714.
-
(1993)
J Pediatr
, vol.122
, pp. 708-714
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Duran, M.3
Bennett, M.J.4
Santer, R.5
Stanley, C.A.6
-
134
-
-
0031821935
-
Analysis of carnitine esters by radio high performance liquid chromatography in cultured skin fibroblasts from patients with mitocnondrial fatty acid oxidation disorders
-
Schmidt-Sommerfeld E. Bobrowski PJ, Penn D, Rhead WJ, Wanders RJ, Bennett MJ (1998) Analysis of carnitine esters by radio high performance liquid chromatography in cultured skin fibroblasts from patients with mitocnondrial fatty acid oxidation disorders. Pediatr Res 44: 210-214.
-
(1998)
Pediatr Res
, vol.44
, pp. 210-214
-
-
Schmidt-Sommerfeld, E.1
Bobrowski, P.J.2
Penn, D.3
Rhead, W.J.4
Wanders, R.J.5
Bennett, M.J.6
-
135
-
-
0031053480
-
Stereochemistry of peroxisomal and mitochondrial beta-oxidation of alpha-methylacyl-CoAs
-
Schmitz W, Conzelmann E (1997) Stereochemistry of peroxisomal and mitochondrial beta-oxidation of alpha-methylacyl-CoAs. Eur J Biochem 244: 434-440.
-
(1997)
Eur J Biochem
, vol.244
, pp. 434-440
-
-
Schmitz, W.1
Conzelmann, E.2
-
136
-
-
0028176487
-
Purification and properties of an alpha-methylacyl-CoA racemase from rat liver
-
Schmitz W, Fingerhut R, Conzelmann E (1994) Purification and properties of an alpha-methylacyl-CoA racemase from rat liver. Eur J Biochem 222: 313-323.
-
(1994)
Eur J Biochem
, vol.222
, pp. 313-323
-
-
Schmitz, W.1
Fingerhut, R.2
Conzelmann, E.3
-
137
-
-
0028982895
-
Purification and characterization of an alpha-methylacyl-CoA racemase from human liver
-
Schmitz W, Albers C, Fingerhut R, Conzelmann E (1995) Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. Eur J Biochem 231: 815-822.
-
(1995)
Eur J Biochem
, vol.231
, pp. 815-822
-
-
Schmitz, W.1
Albers, C.2
Fingerhut, R.3
Conzelmann, E.4
-
138
-
-
0030821703
-
Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases
-
Schmitz W, Helander HM, Hiltunen JK, Conzelmann E (1997) Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases. Biochem J 326: 883-889.
-
(1997)
Biochem J
, vol.326
, pp. 883-889
-
-
Schmitz, W.1
Helander, H.M.2
Hiltunen, J.K.3
Conzelmann, E.4
-
139
-
-
0016239547
-
Long chain enoyl coenzyme A hydratase from pig heart
-
Schulz H (1974) Long chain enoyl coenzyme A hydratase from pig heart. J Biol Chem 249: 2704-2709.
-
(1974)
J Biol Chem
, vol.249
, pp. 2704-2709
-
-
Schulz, H.1
-
140
-
-
0027423726
-
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria
-
Sewell AC, Herwig J, Bohles H, Rinaldo P, Bhala A, Hale DE (1993) A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 152: 922-924.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 922-924
-
-
Sewell, A.C.1
Herwig, J.2
Bohles, H.3
Rinaldo, P.4
Bhala, A.5
Hale, D.E.6
-
141
-
-
0028888960
-
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
-
Sims HF, Brackett JC, Powell CK, et al (1995) The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 92: 841-845.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 841-845
-
-
Sims, H.F.1
Brackett, J.C.2
Powell, C.K.3
-
142
-
-
0030466735
-
Evidence of two catalytically active carnitine medium/ long chain acyltransferases in rat liver peroxisomes
-
Singh H, Beckman K, Poulos A (1996) Evidence of two catalytically active carnitine medium/ long chain acyltransferases in rat liver peroxisomes. J Lipid Res 37: 2616-2626.
-
(1996)
J Lipid Res
, vol.37
, pp. 2616-2626
-
-
Singh, H.1
Beckman, K.2
Poulos, A.3
-
143
-
-
0030657403
-
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management
-
Sluysmans T, Tuerlinckx D, Hubinont C, Verellen-Dumoulin C, Brivet M, Vianey-Saban C (1997) Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management. J Pediatr 131: 444-446.
-
(1997)
J Pediatr
, vol.131
, pp. 444-446
-
-
Sluysmans, T.1
Tuerlinckx, D.2
Hubinont, C.3
Verellen-Dumoulin, C.4
Brivet, M.5
Vianey-Saban, C.6
-
144
-
-
0026625826
-
NADPH-dependent beta-oxidation of unsaturated fatty acids with double bonds extending from odd-numbered carbon atoms
-
Smeland TE, Nada M, Cuebas D, Schulz H (1992) NADPH-dependent beta-oxidation of unsaturated fatty acids with double bonds extending from odd-numbered carbon atoms. Proc Natl Acad Sci USA 89: 6673-6677.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6673-6677
-
-
Smeland, T.E.1
Nada, M.2
Cuebas, D.3
Schulz, H.4
-
145
-
-
0031798837
-
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
-
Smelt AHM, Poorthuis BJHM, Onkenhout W, et al (1998) Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43: 540-544.
-
(1998)
Ann Neurol
, vol.43
, pp. 540-544
-
-
Smelt, A.H.M.1
Poorthuis, B.J.H.M.2
Onkenhout, W.3
-
146
-
-
0029655912
-
Mutation analysis of very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: Identification and characterization of mutant VLCAD cDNAs from four patients
-
Souri M, Aoyama T, Orii K, Yamaguchi S, Hashimoto T (1996) Mutation analysis of very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am J Hum Genet 58: 97-106.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 97-106
-
-
Souri, M.1
Aoyama, T.2
Orii, K.3
Yamaguchi, S.4
Hashimoto, T.5
-
147
-
-
0017800480
-
Purification and properties of a pig heart thiolase with broad chain length specificity and comparison of thiolases from pig heart and Escherichia coli
-
Staack H, Binstock JF, Schulz H (1978) Purification and properties of a pig heart thiolase with broad chain length specificity and comparison of thiolases from pig heart and Escherichia coli. J Biol Chem 253: 1827-1831.
-
(1978)
J Biol Chem
, vol.253
, pp. 1827-1831
-
-
Staack, H.1
Binstock, J.F.2
Schulz, H.3
-
148
-
-
0021053314
-
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
-
Stanley CA, Hale DE, Coates PM, et al. (1983) Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res 17: 877-884.
-
(1983)
Pediatr Res
, vol.17
, pp. 877-884
-
-
Stanley, C.A.1
Hale, D.E.2
Coates, P.M.3
-
149
-
-
0018253712
-
Purification and properties of 3-cis-2-trans-enoyl-CoA isomerase (dodecenoyl-CoA delta-isomerase) from rat liver mitochondria
-
Stoffel W. Grol M (1978) Purification and properties of 3-cis-2-trans-enoyl-CoA isomerase (dodecenoyl-CoA delta-isomerase) from rat liver mitochondria. Hoppe Seylers Z Physiol Chem 359: 1777-1782.
-
(1978)
Hoppe Seylers Z Physiol Chem
, vol.359
, pp. 1777-1782
-
-
Stoffel, W.1
Grol, M.2
-
150
-
-
0028817917
-
Molecular basis of human mitochondrial very long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
-
Strauss AW, Powell CK, Hale DE, et al (1995) Molecular basis of human mitochondrial very long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 92: 10496-10500.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 10496-10500
-
-
Strauss, A.W.1
Powell, C.K.2
Hale, D.E.3
-
151
-
-
0026705065
-
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets
-
Taylor RW, Jackson S, Pourfarzam M, Bartlett K, Turnbull DM (1992) Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets. J Inher Metab Dis 15: 727-732.
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 727-732
-
-
Taylor, R.W.1
Jackson, S.2
Pourfarzam, M.3
Bartlett, K.4
Turnbull, D.M.5
-
152
-
-
0026076169
-
Short-chain L-3-hydroxacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
-
Tein I, De Vivo DC, Hale DE, et al (1991) Short-chain L-3-hydroxacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 35: 415-419.
-
(1991)
Ann Neurol
, vol.35
, pp. 415-419
-
-
Tein, I.1
De Vivo, D.C.2
Hale, D.E.3
-
153
-
-
0033555567
-
Short-chain acyl-CoA dehydrogenase deficiency. A cause of ophthalmoplegia and multicore myopathy
-
Tein I, Haslam RHA, Rhead WJ, Bennett MJ, Becker LE, Vockley J (1999) Short-chain acyl-CoA dehydrogenase deficiency. A cause of ophthalmoplegia and multicore myopathy. Neurology 52: 366-372.
-
(1999)
Neurology
, vol.52
, pp. 366-372
-
-
Tein, I.1
Haslam, R.H.A.2
Rhead, W.J.3
Bennett, M.J.4
Becker, L.E.5
Vockley, J.6
-
154
-
-
0026512568
-
cDNA cloning of mitochondrial delta 3, delta 2-enoyl-CoA isomerase of rat liver
-
Tomioka Y, Hirose A, Moritani H, et al (1992) cDNA cloning of mitochondrial delta 3, delta 2-enoyl-CoA isomerase of rat liver. Biochim Biophys Acta 1130: 109-112.
-
(1992)
Biochim Biophys Acta
, vol.1130
, pp. 109-112
-
-
Tomioka, Y.1
Hirose, A.2
Moritani, H.3
-
155
-
-
0025954516
-
NADPH-dependent reductive metabolism of cis-5 unsaturated fatty acids. A revised pathway for the beta-oxidation of oleic acid
-
Tserng KY, Jin SJ (1991) NADPH-dependent reductive metabolism of cis-5 unsaturated fatty acids. A revised pathway for the beta-oxidation of oleic acid. J Biol Chem 266: 11614-11620.
-
(1991)
J Biol Chem
, vol.266
, pp. 11614-11620
-
-
Tserng, K.Y.1
Jin, S.J.2
-
156
-
-
0021633607
-
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency
-
Turnbull DM, Bartlett K, Stevens DL, et al (1984) Short-chain acyl-CoA
-
(1984)
N Engl J Med
, vol.311
, pp. 1232-1236
-
-
Turnbull, D.M.1
Bartlett, K.2
Stevens, D.L.3
-
157
-
-
0030775662
-
Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
-
Tyni T, Palotie A, Viinikka L, et al (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 130: 67-76.
-
(1997)
J Pediatr
, vol.130
, pp. 67-76
-
-
Tyni, T.1
Palotie, A.2
Viinikka, L.3
-
158
-
-
0026515859
-
Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein
-
Uchida Y, Izai K, Orii T, Hashimoto T (1992) Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. Journal of Biological Chemistry 267: 1034-1041.
-
(1992)
Journal of Biological Chemistry
, vol.267
, pp. 1034-1041
-
-
Uchida, Y.1
Izai, K.2
Orii, T.3
Hashimoto, T.4
-
159
-
-
0029976189
-
Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both alpha- And beta-subunits
-
Ushikubo S, Aoyama T, Kamijo T, et al (1996) Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. Am J Hum Genet 58: 979-988.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 979-988
-
-
Ushikubo, S.1
Aoyama, T.2
Kamijo, T.3
-
160
-
-
0344221863
-
13C]palmitic acid: An improved tool for the diagnosis of fatty acid oxidation defects
-
in press
-
13C]palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta (in press).
-
(1998)
Clin Chim Acta
-
-
Ventura, F.V.1
Costa, C.G.2
Struys, E.A.3
-
161
-
-
0031908208
-
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts
-
Verhoeven NM, Roe DS, Kok RM, Wanders RJA, Jakobs C, Roe C (1998a) Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. J Lipid Res 39: 66-74.
-
(1998)
J Lipid Res
, vol.39
, pp. 66-74
-
-
Verhoeven, N.M.1
Roe, D.S.2
Kok, R.M.3
Wanders, R.J.A.4
Jakobs, C.5
Roe, C.6
-
162
-
-
0031752194
-
The metabolism of phytanic acid and pristanic acid in man: A review
-
Verhoeven NM, Wanders RJA, Poll-The BT, Saudubray JM, Jacobs C (1998b) The metabolism of phytanic acid and pristanic acid in man: a review. J Inher Metab Dis 21: 697-728.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 697-728
-
-
Verhoeven, N.M.1
Wanders, R.J.A.2
Poll-The, B.T.3
Saudubray, J.M.4
Jacobs, C.5
-
163
-
-
0032509853
-
Mitochondrial very-long-chain acylcoenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
-
Vianey-Saban C, Divry P, Brivet M, et al (1998) Mitochondrial very-long-chain acylcoenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43-62.
-
(1998)
Clin Chim Acta
, vol.269
, pp. 43-62
-
-
Vianey-Saban, C.1
Divry, P.2
Brivet, M.3
-
164
-
-
0030601110
-
Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: Cloning and characterization of the coding sequence
-
Vredendaal PJ, van den Berg IE, Malingre HE, et al (1996) Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. Biochem Biophys Res Commun 223: 718-723.
-
(1996)
Biochem Biophys Res Commun
, vol.223
, pp. 718-723
-
-
Vredendaal, P.J.1
Van Den Berg, I.E.2
Malingre, H.E.3
-
165
-
-
0344653300
-
Structural organisation of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene
-
in press
-
Vredendaal PJ, van den Berg IET, Stroobants AK, Van der A DL, Malingre HE, Berger R (1999) Structural organisation of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene. Mamm Genome (in press).
-
(1999)
Mamm Genome
-
-
Vredendaal, P.J.1
Van Den Berg, I.E.T.2
Stroobants, A.K.3
Van Der A, D.L.4
Malingre, H.E.5
Berger, R.6
-
166
-
-
0033001744
-
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
-
Vreken P, Van Lint AEM, Bootsma AH, Overmars H, Wanders RJA, Van Gennip AH (1999) Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inher Metab Dis 22: 302-306.
-
(1999)
J Inher Metab Dis
, vol.22
, pp. 302-306
-
-
Vreken, P.1
Van Lint, A.E.M.2
Bootsma, A.H.3
Overmars, H.4
Wanders, R.J.A.5
Van Gennip, A.H.6
-
167
-
-
0024353075
-
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
-
Wanders RJ, Duran M, IJlst L, et al (1989) Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 2: 52-53.
-
(1989)
Lancet
, vol.2
, pp. 52-53
-
-
Wanders, R.J.1
Duran, M.2
Ijlst, L.3
-
168
-
-
0026458561
-
Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation
-
Wanders RJ, IJlst L, Poggi F, et al (1992) Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 188: 1139-1145.
-
(1992)
Biochem Biophys Res Commun
, vol.188
, pp. 1139-1145
-
-
Wanders, R.J.1
IJlst, L.2
Poggi, F.3
-
169
-
-
0032584506
-
2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): Evidence for a major role of LCAD in branched-chain fatty acid oxidation
-
Wanders RJ, Denis S, Ruiter JP, IJlst L, Dacremont G (1998) 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation. Biochim Biophys Acta 1393: 35-40.
-
(1998)
Biochim Biophys Acta
, vol.1393
, pp. 35-40
-
-
Wanders, R.J.1
Denis, S.2
Ruiter, J.P.3
IJlst, L.4
Dacremont, G.5
-
171
-
-
0030200030
-
Cloning of a cDNA for short/branched chain acyl-coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity
-
Willard J, Vicanek C, Battaile KP, et al (1996) Cloning of a cDNA for short/branched chain acyl-coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity. Arch Biochem Biophys 331: 127-133.
-
(1996)
Arch Biochem Biophys
, vol.331
, pp. 127-133
-
-
Willard, J.1
Vicanek, C.2
Battaile, K.P.3
-
172
-
-
0015207548
-
Intramitochondrial localization of palmitoyl-CoA dehydrogenase, beta-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase in guinea-pig heart
-
Wit-Peeters EM, Scholte HR, Akker F, van den, Nie I, de (1971) Intramitochondrial localization of palmitoyl-CoA dehydrogenase, beta-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase in guinea-pig heart. Biochim Biophys Acta 231: 23-31.
-
(1971)
Biochim Biophys Acta
, vol.231
, pp. 23-31
-
-
Wit-Peeters, E.M.1
Scholte, H.R.2
Van Den Akker, F.3
De Nie, I.4
-
173
-
-
0027207327
-
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K (1993) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 34: 111-113.
-
(1993)
Pediatr Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Indo, Y.2
Coates, P.M.3
Hashimoto, T.4
Tanaka, K.5
-
174
-
-
0030271551
-
The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23
-
Yang BZ, Heng HH, Ding JH, Roe CR (1996) The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23. Genomics 37: 141-143.
-
(1996)
Genomics
, vol.37
, pp. 141-143
-
-
Yang, B.Z.1
Heng, H.H.2
Ding, J.H.3
Roe, C.R.4
-
175
-
-
0025010623
-
Molecular basis of medium chain acyl-coenzyme a dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation
-
Yokota I, Indo Y, Coates PM, Tanaka K (1990) Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86: 1000-1003.
-
(1990)
J Clin Invest
, vol.86
, pp. 1000-1003
-
-
Yokota, I.1
Indo, Y.2
Coates, P.M.3
Tanaka, K.4
-
176
-
-
0025119179
-
Crystallographic studies of 3-ketoacylCoA thiolase from yeast Saccharomyces cerevisiae
-
Zeelen JP, Wierenga RK, Erdmann R, Kunau WH (1990) Crystallographic studies of 3-ketoacylCoA thiolase from yeast Saccharomyces cerevisiae. J Mol Biol 215: 211-213.
-
(1990)
J Mol Biol
, vol.215
, pp. 211-213
-
-
Zeelen, J.P.1
Wierenga, R.K.2
Erdmann, R.3
Kunau, W.H.4
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