-
1
-
-
0000576457
-
Mitochondrial fatty acid oxidation disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill. New York
-
Roe CR, Coates PM 1995 Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. New York, pp 1501-1533
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1501-1533
-
-
Roe, C.R.1
Coates, P.M.2
-
2
-
-
0028197523
-
The changing face of disorders of fatty acid oxidation
-
Vockley J 1994 The changing face of disorders of fatty acid oxidation. Mayo Clin Proc 69:249-257
-
(1994)
Mayo Clin Proc
, vol.69
, pp. 249-257
-
-
Vockley, J.1
-
3
-
-
0024444062
-
Quantitation of urinary carnitine esters in a patient with medium chain acyl-coenzyme a dehydrogenase deficiency: Effect of metabolic state and L-carnitine therapy
-
Schmidt-Sommerfeld E, Penn D, Kerner J, Bieber LL, Rossi TM, Lebenthal E 1989 Quantitation of urinary carnitine esters in a patient with medium chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy. J Pediatr 115:577-582
-
(1989)
J Pediatr
, vol.115
, pp. 577-582
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Kerner, J.3
Bieber, L.L.4
Rossi, T.M.5
Lebenthal, E.6
-
4
-
-
0028589872
-
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders
-
Pourfarzam M, Schaefer J, Turnbull DM, Bartlett K 1994 Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders. Clin Chem 12:2267-2275
-
(1994)
Clin Chem
, vol.12
, pp. 2267-2275
-
-
Pourfarzam, M.1
Schaefer, J.2
Turnbull, D.M.3
Bartlett, K.4
-
5
-
-
0028950214
-
Evidence for intermediate channeling in mitochondrial β-oxidation
-
Nada MA, Rhead WJ, Sprecher H, Schulz H, Roe CR 1995 Evidence for intermediate channeling in mitochondrial β-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
-
6
-
-
0028931890
-
Fatty acid oxidation in peripheral blood cells: Characterization and use for the diagnosis of defects of fatty acid oxidation
-
Schaefer J, Pourfarzam M, Bartlett K, Jackson S, Turnbull DM 1995 Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation. Pediatr Res 37:354-360
-
(1995)
Pediatr Res
, vol.37
, pp. 354-360
-
-
Schaefer, J.1
Pourfarzam, M.2
Bartlett, K.3
Jackson, S.4
Turnbull, D.M.5
-
7
-
-
0028933205
-
Investigation of β-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry
-
Nada MA, Chace DH, Sprecher H and Roe CR 1995 Investigation of β-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. Biochem Mol Med 54:59-66
-
(1995)
Biochem Mol Med
, vol.54
, pp. 59-66
-
-
Nada, M.A.1
Chace, D.H.2
Sprecher, H.3
Roe, C.R.4
-
8
-
-
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
-
9
-
-
0028783290
-
Quantitation of short-and medium-chain acylcarnitines in plasma by radioisotopic exchange/high-performance liquid chromatography
-
Schmidt-Sommerfeld E, Zhang L, Bobrowski PJ, Penn D 1995 Quantitation of short-and medium-chain acylcarnitines in plasma by radioisotopic exchange/high-performance liquid chromatography. Anal Biochem 231:27-33
-
(1995)
Anal Biochem
, vol.231
, pp. 27-33
-
-
Schmidt-Sommerfeld, E.1
Zhang, L.2
Bobrowski, P.J.3
Penn, D.4
-
10
-
-
0014289456
-
Propionylcamitine, physiological variations in vivo
-
Bohmer T, Bremer J 1986 Propionylcamitine, physiological variations in vivo. Biochim Biophys Acta 152:559-567
-
(1986)
Biochim Biophys Acta
, vol.152
, pp. 559-567
-
-
Bohmer, T.1
Bremer, J.2
-
11
-
-
0028078632
-
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
-
Burlina AB, Dioniso-Vici C, Bennett MJ, Gibson KM, Servideo S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Facchello F, Rinaldo P 1994 A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 124:79-86
-
(1994)
J Pediatr
, vol.124
, pp. 79-86
-
-
Burlina, A.B.1
Dioniso-Vici, C.2
Bennett, M.J.3
Gibson, K.M.4
Servideo, S.5
Bertini, E.6
Hale, D.E.7
Schmidt-Sommerfeld, E.8
Sabetta, G.9
Facchello, F.10
Rinaldo, P.11
-
12
-
-
0029060330
-
Clinical and biochemical characterization of short-chain acyl-CoA dehydrogenase deficiency
-
Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE 1995 Clinical and biochemical characterization of short-chain acyl-CoA 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
-
13
-
-
0022558999
-
Short-chain acyl carnitines: Identification and quantitation
-
Bieber LL, Kerner J 1986 Short-chain acyl carnitines: identification and quantitation. Methods Enzymol 123:264-276
-
(1986)
Methods Enzymol
, vol.123
, pp. 264-276
-
-
Bieber, L.L.1
Kerner, J.2
-
14
-
-
0025240731
-
Glutaric acidemia type II: Heterogeneity of clinical and biochemical phenotypes
-
Loehr JP, Goodman SI, Frerman FE 1990 Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr Res 27:311-315
-
(1990)
Pediatr Res
, vol.27
, pp. 311-315
-
-
Loehr, J.P.1
Goodman, S.I.2
Frerman, F.E.3
-
15
-
-
0019992258
-
Oxidation of fatty acids in cultured fibroblasts: A model system for the detection and study of defects in oxidation
-
Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL 1982 Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 16:877-881
-
(1982)
Pediatr Res
, vol.16
, pp. 877-881
-
-
Saudubray, J.M.1
Coude, F.X.2
Demaugre, F.3
Johnson, C.4
Gibson, K.M.5
Nyhan, W.L.6
-
16
-
-
0025177610
-
Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: An overview
-
Tanaka K, Coates PM (eds) Alan R Liss, New York
-
Rhead WJ 1990 Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview. In: Tanaka K, Coates PM (eds) Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. Alan R Liss, New York, pp 365-382
-
(1990)
Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, pp. 365-382
-
-
Rhead, W.J.1
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