-
1
-
-
3743108265
-
A defect in the transport of long-chain fatty acids associated with acute liver failure
-
Al-Odaib A., Shneider B.L., Bennett M.J., et al. A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med 1998, 339:1752-1757.
-
(1998)
N Engl J Med
, vol.339
, pp. 1752-1757
-
-
Al-Odaib, A.1
Shneider, B.L.2
Bennett, M.J.3
-
2
-
-
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
-
Andresen B.S., Bross P., Vianey-Saban C., et al. 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 1996, 5:461-472.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 461-472
-
-
Andresen, B.S.1
Bross, P.2
Vianey-Saban, C.3
-
3
-
-
0029919211
-
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
-
Andresen B.S., Vianey-Saban C., Bross P., et al. The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1996, 19:169-172.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 169-172
-
-
Andresen, B.S.1
Vianey-Saban, C.2
Bross, P.3
-
4
-
-
0029078041
-
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
-
Aoyama T., Souri M., Ushikubo S., et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 1995, 95:2465-2473.
-
(1995)
J Clin Invest
, vol.95
, pp. 2465-2473
-
-
Aoyama, T.1
Souri, M.2
Ushikubo, S.3
-
5
-
-
17744419968
-
Free fatty acid oxidation in bovine muscle in vivo: effects of cold exposure and feeding
-
Bell A.W., Thompson G.E. Free fatty acid oxidation in bovine muscle in vivo: effects of cold exposure and feeding. Am J Physiol 1979, 237:E309-E315.
-
(1979)
Am J Physiol
, vol.237
-
-
Bell, A.W.1
Thompson, G.E.2
-
6
-
-
77957554125
-
Pathophysiology of fatty acid oxidation disorders
-
Bennett M.J. Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis 2010, 33:533-537.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 533-537
-
-
Bennett, M.J.1
-
7
-
-
0023476251
-
The incidence and presentation of dicarboxylic aciduria
-
Bennett M.J., Worthy E., Pollitt R.J. The incidence and presentation of dicarboxylic aciduria. J Inherit Metab Dis 1987, 10:241-242.
-
(1987)
J Inherit Metab Dis
, vol.10
, pp. 241-242
-
-
Bennett, M.J.1
Worthy, E.2
Pollitt, R.J.3
-
8
-
-
0030041154
-
Mitochondrial short-chain L-3-hydroxybutyryl-CoA dehydrogenase deficiency: a new defect of fatty acid oxidation
-
Bennett M.J., Weinberger M.J., Kobori J.A., et al. Mitochondrial short-chain L-3-hydroxybutyryl-CoA dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res 1996, 39:185-188.
-
(1996)
Pediatr Res
, vol.39
, pp. 185-188
-
-
Bennett, M.J.1
Weinberger, M.J.2
Kobori, J.A.3
-
9
-
-
0033039270
-
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation
-
Bennett M.J., Spotswood S.D., Ross K.F., et al. Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. Pediatr Dev Pathol 1999, 2:337-345.
-
(1999)
Pediatr Dev Pathol
, vol.2
, pp. 337-345
-
-
Bennett, M.J.1
Spotswood, S.D.2
Ross, K.F.3
-
10
-
-
33747006635
-
Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain L-3-hydroxy-acyl-CoA dehydrogenase
-
Bennett M.J., Russell L.K., Tokunaga C., et al. Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain L-3-hydroxy-acyl-CoA dehydrogenase. Mol Genet Metab 2006, 89:74-79.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 74-79
-
-
Bennett, M.J.1
Russell, L.K.2
Tokunaga, C.3
-
11
-
-
0029060330
-
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency
-
Bhala A., Willi S.M., Rinaldo P., et al. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995, 126:910-915.
-
(1995)
J Pediatr
, vol.126
, pp. 910-915
-
-
Bhala, A.1
Willi, S.M.2
Rinaldo, P.3
-
12
-
-
0026020142
-
Frequency of the G985 MCAD mutation in the general population
-
Blakemore A.I.F., Singleton H., Pollitt R.J., et al. Frequency of the G985 MCAD mutation in the general population. Lancet 1991, 337:298-299.
-
(1991)
Lancet
, vol.337
, pp. 298-299
-
-
Blakemore, A.I.F.1
Singleton, H.2
Pollitt, R.J.3
-
13
-
-
0021024932
-
Carnitine-metabolism and functions
-
Bremer J. Carnitine-metabolism and functions. Physiol Rev 1983, 63:1420-1480.
-
(1983)
Physiol Rev
, vol.63
, pp. 1420-1480
-
-
Bremer, J.1
-
14
-
-
0014954713
-
Starvation in man
-
Cahill G.F. Starvation in man. N Engl J Med 1970, 282:668-675.
-
(1970)
N Engl J Med
, vol.282
, pp. 668-675
-
-
Cahill, G.F.1
-
15
-
-
0036432303
-
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
-
Cederbaum S.D., Koo-McCoy S., Tein I., et al. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab 2002, 77:195-201.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 195-201
-
-
Cederbaum, S.D.1
Koo-McCoy, S.2
Tein, I.3
-
16
-
-
0023700730
-
Glutaric acidemia type II: comparison of pathologic features in two infants
-
Colevas A.D., Edwards J.L., Hruban R.H., et al. Glutaric acidemia type II: comparison of pathologic features in two infants. Arch Pathol Lab Med 1988, 112:1133-1139.
-
(1988)
Arch Pathol Lab Med
, vol.112
, pp. 1133-1139
-
-
Colevas, A.D.1
Edwards, J.L.2
Hruban, R.H.3
-
17
-
-
0023713866
-
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome
-
Corkey B.E., Hale D.E., Glennon M.C., et al. Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome. J Clin Invest 1988, 82:782-788.
-
(1988)
J Clin Invest
, vol.82
, pp. 782-788
-
-
Corkey, B.E.1
Hale, D.E.2
Glennon, M.C.3
-
18
-
-
9344226779
-
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase
-
Corydon M.J., Gregersen N., Lehnert W., et al. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res 1996, 39:1059-1066.
-
(1996)
Pediatr Res
, vol.39
, pp. 1059-1066
-
-
Corydon, M.J.1
Gregersen, N.2
Lehnert, W.3
-
19
-
-
0035193285
-
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
-
Corydon M.J., Vockley J., Rinaldo P., et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001, 49:18-23.
-
(2001)
Pediatr Res
, vol.49
, pp. 18-23
-
-
Corydon, M.J.1
Vockley, J.2
Rinaldo, P.3
-
20
-
-
0025906746
-
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
-
Demaugre F., Bonnefont J.P., Colonna M., et al. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 1991, 87:859-864.
-
(1991)
J Clin Invest
, vol.87
, pp. 859-864
-
-
Demaugre, F.1
Bonnefont, J.P.2
Colonna, M.3
-
21
-
-
0002846232
-
Carnitine palmitoyltransferase deficiency
-
McGraw-Hill, New York
-
DiMauro S., Papadimitriou A. Carnitine palmitoyltransferase deficiency. Myology 1986, Vol. 2. McGraw-Hill, New York.
-
(1986)
Myology
, vol.2
-
-
DiMauro, S.1
Papadimitriou, A.2
-
22
-
-
0025828169
-
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Dionisi-Vici C., Burlina A.B., Bertini E., et al. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991, 118:744-746.
-
(1991)
J Pediatr
, vol.118
, pp. 744-746
-
-
Dionisi-Vici, C.1
Burlina, A.B.2
Bertini, E.3
-
23
-
-
43149104941
-
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders
-
Djouadi F., Bastin J. PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis 2008, 31:217.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 217
-
-
Djouadi, F.1
Bastin, J.2
-
24
-
-
0027157099
-
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency
-
Elpeleg O.N., Joseph A., Branski D., et al. Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr 1993, 122:917-919.
-
(1993)
J Pediatr
, vol.122
, pp. 917-919
-
-
Elpeleg, O.N.1
Joseph, A.2
Branski, D.3
-
25
-
-
0018093584
-
Glycogen depletion of different types in human skeletal muscle during intermittent and continuous exercise
-
Essen B. Glycogen depletion of different types in human skeletal muscle during intermittent and continuous exercise. Acta Physiol Scand 1978, 103:446-455.
-
(1978)
Acta Physiol Scand
, vol.103
, pp. 446-455
-
-
Essen, B.1
-
26
-
-
32644460092
-
From molecular action to physiological outputs: peroxisome proliferator-activated receptors are nuclear receptors at the crossroads of key cellular functions
-
Feige J.N., Gelman L., Michalik L., et al. From molecular action to physiological outputs: peroxisome proliferator-activated receptors are nuclear receptors at the crossroads of key cellular functions. Prog Lipid Res 2006, 45:120.
-
(2006)
Prog Lipid Res
, vol.45
, pp. 120
-
-
Feige, J.N.1
Gelman, L.2
Michalik, L.3
-
27
-
-
0016694972
-
Fuel homeostasis in exercise
-
Felig P., Wahren J. Fuel homeostasis in exercise. N Engl J Med 1975, 293:1078-1084.
-
(1975)
N Engl J Med
, vol.293
, pp. 1078-1084
-
-
Felig, P.1
Wahren, J.2
-
28
-
-
0001969912
-
The glycogen storage diseases
-
Springer, New York, J. Fernandes, J.M. Saudubray, C. Van den Berghe (Eds.)
-
Fernandes J., Smit G. The glycogen storage diseases. Inborn error of metabolic diseases, diagnosis and treatment 2001, 85-118. Springer, New York. 3rd edn. J. Fernandes, J.M. Saudubray, C. Van den Berghe (Eds.).
-
(2001)
Inborn error of metabolic diseases, diagnosis and treatment
, pp. 85-118
-
-
Fernandes, J.1
Smit, G.2
-
29
-
-
66149140600
-
Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency
-
Fingerhut R., Ensenauer R., Röschinger W., et al. Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency. Anal Chem 2009, 81:3571.
-
(2009)
Anal Chem
, vol.81
, pp. 3571
-
-
Fingerhut, R.1
Ensenauer, R.2
Röschinger, W.3
-
30
-
-
0028986172
-
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene
-
Fukao T., Yamaguchi S., Orii T., et al. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat 1995, 5:113-120.
-
(1995)
Hum Mutat
, vol.5
, pp. 113-120
-
-
Fukao, T.1
Yamaguchi, S.2
Orii, T.3
-
31
-
-
0030891031
-
Identification of three novel frameshift mutations (83delAT), 754insCT, and 435+1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency
-
Fukao T., Song X.Q., Yamaguchi S., et al. Identification of three novel frameshift mutations (83delAT), 754insCT, and 435+1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency. Hum Mutat 1997, 9:277-278.
-
(1997)
Hum Mutat
, vol.9
, pp. 277-278
-
-
Fukao, T.1
Song, X.Q.2
Yamaguchi, S.3
-
32
-
-
34248171499
-
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
-
Gempel K., Topaloglu H., Talim B., et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007, 130:2037-2044.
-
(2007)
Brain
, vol.130
, pp. 2037-2044
-
-
Gempel, K.1
Topaloglu, H.2
Talim, B.3
-
33
-
-
0024260942
-
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients
-
Gibson E.M., Breuer J., Nyhan W.L. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 1988, 148:180-186.
-
(1988)
Eur J Pediatr
, vol.148
, pp. 180-186
-
-
Gibson, E.M.1
Breuer, J.2
Nyhan, W.L.3
-
34
-
-
84876855821
-
DHA supplementation in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
May 21-25, Vienna, Austria, (Abstr)
-
Gillingham M.B., Mills M.D., Vancalcar S.C., et al. DHA supplementation in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 7th International Congress of Inborn Errors of Metabolism 1997, May 21-25, Vienna, Austria, (Abstr).
-
(1997)
7th International Congress of Inborn Errors of Metabolism
-
-
Gillingham, M.B.1
Mills, M.D.2
Vancalcar, S.C.3
-
35
-
-
0032957435
-
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD): a case report and survey
-
Gillingham M., Van Calcar S., Ney D., et al. Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD): a case report and survey. J Inherit Metab Dis 1999, 22:123-131.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 123-131
-
-
Gillingham, M.1
Van Calcar, S.2
Ney, D.3
-
36
-
-
0020540868
-
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet
-
Glasgow A.M., Engel A.G., Bier D.M., et al. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet. Pediatr Res 1983, 17:319-326.
-
(1983)
Pediatr Res
, vol.17
, pp. 319-326
-
-
Glasgow, A.M.1
Engel, A.G.2
Bier, D.M.3
-
37
-
-
0021933553
-
Metabolism of substrates: energy substrate metabolism during exercise and as modified by training
-
Gollnick P.D. Metabolism of substrates: energy substrate metabolism during exercise and as modified by training. Fed Proc 1985, 44:353-357.
-
(1985)
Fed Proc
, vol.44
, pp. 353-357
-
-
Gollnick, P.D.1
-
38
-
-
0026677055
-
Human cDNA encoding ETF dehydrogenase (ETF; ubiquinone oxidoreductase), and mutations in glutaric acidemia type II
-
Wiley-Liss, New York, P.M. Coates, K. Tanaka (Eds.)
-
Goodman S.I., Bemelen K.F., Frerman F.E. Human cDNA encoding ETF dehydrogenase (ETF; ubiquinone oxidoreductase), and mutations in glutaric acidemia type II. Progress in Clinical and Biological Research. New Developments in Fatty Acid Oxidation 1992, Vol. 375. Wiley-Liss, New York. P.M. Coates, K. Tanaka (Eds.).
-
(1992)
Progress in Clinical and Biological Research. New Developments in Fatty Acid Oxidation
, vol.375
-
-
Goodman, S.I.1
Bemelen, K.F.2
Frerman, F.E.3
-
39
-
-
0020001119
-
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects
-
Gregersen N., Wintzensen H., Kølvraa S., et al. C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res 1982, 16:861-868.
-
(1982)
Pediatr Res
, vol.16
, pp. 861-868
-
-
Gregersen, N.1
Wintzensen, H.2
Kølvraa, S.3
-
40
-
-
0025768565
-
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
-
Gregersen N., Andresen B.S., Bross P., et al. Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1991, 14:314-316.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 314-316
-
-
Gregersen, N.1
Andresen, B.S.2
Bross, P.3
-
41
-
-
8544238680
-
Characterization of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients with SCAD deficiency (abstract)
-
Gregersen N., Winter V.S., Corydon M.J., et al. Characterization of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients with SCAD deficiency (abstract). J Inherit Metab Dis 1996, 19.
-
(1996)
J Inherit Metab Dis
, pp. 19
-
-
Gregersen, N.1
Winter, V.S.2
Corydon, M.J.3
-
42
-
-
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 V.S., Corydon M.J., et al. 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 1998, 7:619-627.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 619-627
-
-
Gregersen, N.1
Winter, V.S.2
Corydon, M.J.3
-
43
-
-
56049114390
-
Mitochondrial fatty acid oxidation defects - remaining challenges
-
Gregersen N., Andresen B.S., Pedersen C.B., et al. Mitochondrial fatty acid oxidation defects - remaining challenges. J Inherit Metab Dis 2008, 31:643.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 643
-
-
Gregersen, N.1
Andresen, B.S.2
Pedersen, C.B.3
-
44
-
-
78649474742
-
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
-
Haack T.B., Danhauser K., Haberberger B., et al. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nature Genet 2010, 42:1131-1134.
-
(2010)
Nature Genet
, vol.42
, pp. 1131-1134
-
-
Haack, T.B.1
Danhauser, K.2
Haberberger, B.3
-
45
-
-
0026718314
-
Fatty acid oxidation disorders: a new class of metabolic diseases
-
Hale D.E., Bennett M.J. Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 1992, 121:1-11.
-
(1992)
J Pediatr
, vol.121
, pp. 1-11
-
-
Hale, D.E.1
Bennett, M.J.2
-
46
-
-
0021873302
-
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia
-
Hale D.E., Batshaw M.L., Coates P.M., et al. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res 1985, 19:666-671.
-
(1985)
Pediatr Res
, vol.19
, pp. 666-671
-
-
Hale, D.E.1
Batshaw, M.L.2
Coates, P.M.3
-
47
-
-
0025025196
-
The long-chain acyl-CoA dehydrogenase deficiency
-
Alan R. Liss, New York, K. Tanaka, P.M. Coates (Eds.)
-
Hale D.E., Stanley C.A., Coates P.M. The long-chain acyl-CoA dehydrogenase deficiency. Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects 1990, Vol. 321:303-311. Alan R. Liss, New York. K. Tanaka, P.M. Coates (Eds.).
-
(1990)
Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, vol.321
, pp. 303-311
-
-
Hale, D.E.1
Stanley, C.A.2
Coates, P.M.3
-
48
-
-
0025115137
-
The L-3-hydroxyacyl-CoA dehydrogenase deficiency
-
Alan R. Liss, New York, K. Tanaka, P.M. Coates (Eds.)
-
Hale D.E., Thorpe C., Braat K., et al. The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects 1990, Vol. 321:503-510. Alan R. Liss, New York. K. Tanaka, P.M. Coates (Eds.).
-
(1990)
Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, vol.321
, pp. 503-510
-
-
Hale, D.E.1
Thorpe, C.2
Braat, K.3
-
49
-
-
0033038553
-
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Harding C.O., Gillingham M.B., Van Calcar S.C., et al. Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1999, 22:276-280.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 276-280
-
-
Harding, C.O.1
Gillingham, M.B.2
Van Calcar, S.C.3
-
50
-
-
0025300795
-
Effects of cornstarch treatment in very young children with type I glycogen storage diseases
-
Hayde M., Widhalm K. Effects of cornstarch treatment in very young children with type I glycogen storage diseases. Eur J Pediatr 1990, 149:630-633.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 630-633
-
-
Hayde, M.1
Widhalm, K.2
-
51
-
-
34347257475
-
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
-
He M., Rutledge S.L., Kelly D.R., et al. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet 2007, 81:87-103.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 87-103
-
-
He, M.1
Rutledge, S.L.2
Kelly, D.R.3
-
52
-
-
0026410146
-
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
-
Hug G., Bove K.E., Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991, 325:1862-1864.
-
(1991)
N Engl J Med
, vol.325
, pp. 1862-1864
-
-
Hug, G.1
Bove, K.E.2
Soukup, S.3
-
53
-
-
0032531101
-
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
-
Ibdah J.A., Tein I., Dionisi-Vici C., et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 1998, 102:1193-1199.
-
(1998)
J Clin Invest
, vol.102
, pp. 1193-1199
-
-
Ibdah, J.A.1
Tein, I.2
Dionisi-Vici, C.3
-
54
-
-
0345183622
-
The association between maternal liver disease and the common mutation in mitochondrial trifunctional protein is significant
-
(Abstr)
-
Ibdah J.A., Zhao M., Hill I., et al. The association between maternal liver disease and the common mutation in mitochondrial trifunctional protein is significant. Hepatology 1998, 28:316. (Abstr).
-
(1998)
Hepatology
, vol.28
, pp. 316
-
-
Ibdah, J.A.1
Zhao, M.2
Hill, I.3
-
55
-
-
0033519714
-
A fetal fatty acid oxidation disorder as a cause of liver disease in pregnant women
-
Ibdah J.A., Bennett M.J., Rinaldo P., et al. A fetal fatty acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999, 340:1723-1731.
-
(1999)
N Engl J Med
, vol.340
, pp. 1723-1731
-
-
Ibdah, J.A.1
Bennett, M.J.2
Rinaldo, P.3
-
56
-
-
0020638576
-
L-palmitoylcarnitine and calcium ions act similarly on excitatory ionic currents in avian ventricular muscle
-
Inoue D., Pappano A.J. L-palmitoylcarnitine and calcium ions act similarly on excitatory ionic currents in avian ventricular muscle. Circ Res 1983, 52:625-634.
-
(1983)
Circ Res
, vol.52
, pp. 625-634
-
-
Inoue, D.1
Pappano, A.J.2
-
57
-
-
0029811021
-
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel mutant allele
-
Isaacs J.D., Sims H.F., Powell C.K., et al. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel mutant allele. Pediatr Res 1996, 40:393-398.
-
(1996)
Pediatr Res
, vol.40
, pp. 393-398
-
-
Isaacs, J.D.1
Sims, H.F.2
Powell, C.K.3
-
58
-
-
46749130057
-
CPT 2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
-
Isackson P.J., Bennett M.J., Lichter U., et al. CPT 2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2008, 94:422-427.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 422-427
-
-
Isackson, P.J.1
Bennett, M.J.2
Lichter, U.3
-
60
-
-
0030779165
-
Medium-chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid β-oxidation
-
Kamijo T., Indo Y., Souri M., et al. Medium-chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid β-oxidation. Pediatr Res 1997, 42:569-576.
-
(1997)
Pediatr Res
, vol.42
, pp. 569-576
-
-
Kamijo, T.1
Indo, Y.2
Souri, M.3
-
61
-
-
0021105153
-
A radioisotopic exchange method for quantitation of short-chain (acid soluble) acylcarnitines
-
Kerner J., Bieber L.L. A radioisotopic exchange method for quantitation of short-chain (acid soluble) acylcarnitines. Anal Biochem 1983, 134:459-466.
-
(1983)
Anal Biochem
, vol.134
, pp. 459-466
-
-
Kerner, J.1
Bieber, L.L.2
-
62
-
-
0029880653
-
Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver
-
Kobayashi A., Jiang L.L., Hashimoto T. Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver. J Biochem (Tokyo) 1996, 119:775-782.
-
(1996)
J Biochem (Tokyo)
, vol.119
, pp. 775-782
-
-
Kobayashi, A.1
Jiang, L.L.2
Hashimoto, T.3
-
63
-
-
4243325434
-
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy
-
Lamhonwah A.M., Olpin S.E., Pollitt R.J., et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 2002, 111:271-284.
-
(2002)
Am J Med Genet
, vol.111
, pp. 271-284
-
-
Lamhonwah, A.M.1
Olpin, S.E.2
Pollitt, R.J.3
-
64
-
-
0037900979
-
Minireview: lipid metabolism, metabolic diseases, and peroxisome proliferator-activated receptors
-
Lee C.H., Olson P., Evans R.M. Minireview: lipid metabolism, metabolic diseases, and peroxisome proliferator-activated receptors. Endocrinology 2003, 144:2201-2207.
-
(2003)
Endocrinology
, vol.144
, pp. 2201-2207
-
-
Lee, C.H.1
Olson, P.2
Evans, R.M.3
-
65
-
-
0022619249
-
Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles
-
Mak I.T., Kramer J.H., Weglicki W.B. Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles. J Biol Chem 1986, 26:1153-1164.
-
(1986)
J Biol Chem
, vol.26
, pp. 1153-1164
-
-
Mak, I.T.1
Kramer, J.H.2
Weglicki, W.B.3
-
66
-
-
0041942331
-
New methods for the analysis of acylcarnitines and acyl-coenzyme A compounds
-
Wiley, New York, ch. 7, S.J. Gaskell (Ed.)
-
Millington D.S. New methods for the analysis of acylcarnitines and acyl-coenzyme A compounds. Mass Spectrometry in Biomedical Research 1986, Wiley, New York, ch. 7. S.J. Gaskell (Ed.).
-
(1986)
Mass Spectrometry in Biomedical Research
-
-
Millington, D.S.1
-
67
-
-
0026621735
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Wiley-Liss, New York, P.M. Coates, K. Tanaka (Eds.)
-
Millington D.S., Terada N., Chace D.H., et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Progress in Clinical and Biological Research. New Developments in Fatty Acid Oxidation 1992, Vol. 375. Wiley-Liss, New York. P.M. Coates, K. Tanaka (Eds.).
-
(1992)
Progress in Clinical and Biological Research. New Developments in Fatty Acid Oxidation
, vol.375
-
-
Millington, D.S.1
Terada, N.2
Chace, D.H.3
-
68
-
-
0001666124
-
Inborn errors of ketone body metabolism
-
McGraw-Hill, New York, C. Scriver, A.L. Beaudet, W. Sly (Eds.)
-
Mitchell G.A., Fukao T. Inborn errors of ketone body metabolism. The Metabolic and Molecular Basis of Inherited Disease 2001, 2327-2356. McGraw-Hill, New York. 8th edn. C. Scriver, A.L. Beaudet, W. Sly (Eds.).
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2327-2356
-
-
Mitchell, G.A.1
Fukao, T.2
-
69
-
-
0023262019
-
Bezafibrate. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in hyperlipidaemia
-
Monk J.P., Todd P.A. Bezafibrate. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in hyperlipidaemia. Drugs 1987, 33:539-576.
-
(1987)
Drugs
, vol.33
, pp. 539-576
-
-
Monk, J.P.1
Todd, P.A.2
-
70
-
-
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. 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 1990, 85:1575-1582.
-
(1990)
J Clin Invest
, vol.85
, pp. 1575-1582
-
-
Naito, E.1
Indo, Y.2
Tanaka, K.3
-
71
-
-
0028221809
-
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
-
Ogilvie I., Pourfarzam M., Jackson S., et al. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994, 44:467-473.
-
(1994)
Neurology
, vol.44
, pp. 467-473
-
-
Ogilvie, I.1
Pourfarzam, M.2
Jackson, S.3
-
72
-
-
46949109490
-
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
-
Pedersen C.B., Kolvraa S., Kolvraa A., et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 2008, 124:43-56.
-
(2008)
Hum Genet
, vol.124
, pp. 43-56
-
-
Pedersen, C.B.1
Kolvraa, S.2
Kolvraa, A.3
-
73
-
-
0038694566
-
Bezafibrate is a dual ligand for PPARalpha and PPARbeta: studies using null mice
-
Peters J.M., Aoyama T., Burns A.M., et al. Bezafibrate is a dual ligand for PPARalpha and PPARbeta: studies using null mice. Biochim Biophys Acta 2003, 1632:80-89.
-
(2003)
Biochim Biophys Acta
, vol.1632
, pp. 80-89
-
-
Peters, J.M.1
Aoyama, T.2
Burns, A.M.3
-
75
-
-
0029993142
-
Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA-3-ketoacid CoA-transferase in cultured fibroblasts
-
Pretorius C.J., Son G.G.L., Bonnici F., et al. Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA-3-ketoacid CoA-transferase in cultured fibroblasts. J Inherit Metab Dis 1996, 19:296-300.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 296-300
-
-
Pretorius, C.J.1
Son, G.G.L.2
Bonnici, F.3
-
76
-
-
0036881550
-
Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects in fatty acid oxidation
-
Renaud D.L., Edwards V., Wilson G.J., et al. Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects in fatty acid oxidation. A novel screening test. J Inherit Metab Dis 2002, 25:547-555.
-
(2002)
A novel screening test. J Inherit Metab Dis
, vol.25
, pp. 547-555
-
-
Renaud, D.L.1
Edwards, V.2
Wilson, G.J.3
-
77
-
-
0025177610
-
Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview
-
Alan R. Liss, New York, K. Tanaka, P.M. Coates (Eds.)
-
Rhead W.J. Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview. Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects 1990, Vol. 321:365-382. Alan R. Liss, New York. K. Tanaka, P.M. Coates (Eds.).
-
(1990)
Progress in Clinical and Biological Research. Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, vol.321
, pp. 365-382
-
-
Rhead, W.J.1
-
78
-
-
7144263747
-
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
-
Ribes A., Riudor E., Garavaglia B., et al. Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 1998, 157:317-320.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 317-320
-
-
Ribes, A.1
Riudor, E.2
Garavaglia, B.3
-
79
-
-
0034521895
-
Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation
-
Rinaldo P., Matern D. Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation. Genet Med 2000, 2:338-344.
-
(2000)
Genet Med
, vol.2
, pp. 338-344
-
-
Rinaldo, P.1
Matern, D.2
-
81
-
-
0025277176
-
2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation
-
Roe C.R., Millington D.S., Norwood D.L., et al. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest 1990, 85:1703-1707.
-
(1990)
J Clin Invest
, vol.85
, pp. 1703-1707
-
-
Roe, C.R.1
Millington, D.S.2
Norwood, D.L.3
-
82
-
-
0036071008
-
Treatment of cardiomyopathy and rhabodmyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
-
Roe C.R., Sweetman L., Roe D.S., et al. Treatment of cardiomyopathy and rhabodmyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 2002, 110:259-269.
-
(2002)
J Clin Invest
, vol.110
, pp. 259-269
-
-
Roe, C.R.1
Sweetman, L.2
Roe, D.S.3
-
83
-
-
0028949363
-
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency
-
Ruitenbeek W., Poels P.J.E., Turnbull D.M., et al. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Neurol Neurosurg Psychiatry 1995, 58:209-214.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 209-214
-
-
Ruitenbeek, W.1
Poels, P.J.E.2
Turnbull, D.M.3
-
84
-
-
0028888960
-
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
-
Sims H.F., Brackett J.C., Powell C.K., et al. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A 1995, 92:841-845.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 841-845
-
-
Sims, H.F.1
Brackett, J.C.2
Powell, C.K.3
-
85
-
-
0036884407
-
Management of fatty acid oxdation disorders: a survery of current treatment strategies
-
Solis J.O., Singh R.H. Management of fatty acid oxdation disorders: a survery of current treatment strategies. J Am Diet Assoc 2002, 102:1800-1803.
-
(2002)
J Am Diet Assoc
, vol.102
, pp. 1800-1803
-
-
Solis, J.O.1
Singh, R.H.2
-
86
-
-
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., et al. 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 1996, 58:97-106.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 97-106
-
-
Souri, M.1
Aoyama, T.2
Orii, K.3
-
87
-
-
0022407009
-
Activators and inactivators of Ca++ channels: new perspectives
-
Spedding M. Activators and inactivators of Ca++ channels: new perspectives. J Pharmacol (Paris) 1985, 16:319-343.
-
(1985)
J Pharmacol (Paris)
, vol.16
, pp. 319-343
-
-
Spedding, M.1
-
88
-
-
0023424901
-
Direct activation of Ca++ channels by palmitoyl carnitine, a putative endogenous ligand
-
Spedding M., Mir A.K. Direct activation of Ca++ channels by palmitoyl carnitine, a putative endogenous ligand. Br J Pharmacol 1987, 92:457-468.
-
(1987)
Br J Pharmacol
, vol.92
, pp. 457-468
-
-
Spedding, M.1
Mir, A.K.2
-
89
-
-
0347361626
-
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein
-
Spiekerkoetter U., Bennett M.J., Ben-Zeev B., et al. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 2004, 29:66-72.
-
(2004)
Muscle Nerve
, vol.29
, pp. 66-72
-
-
Spiekerkoetter, U.1
Bennett, M.J.2
Ben-Zeev, B.3
-
90
-
-
69449095345
-
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
-
Spiekerkoetter U., Lindner M., Santer R., et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis 2009, 32:488-497.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 488-497
-
-
Spiekerkoetter, U.1
Lindner, M.2
Santer, R.3
-
91
-
-
0024986683
-
Medium-chain acyl-CoA dehydrogenase deficiency
-
Alan R. Liss, New York, K. Tanaka, P.M. Coates (Eds.)
-
Stanley C.A., Hale D.E., Coates P.M. Medium-chain acyl-CoA dehydrogenase deficiency. Progress in Clinical and Biological Research. Fatty Acid Oxidation. Clinical, Biochemical, and Molecular Aspects 1990, Vol. 321:291-302. Alan R. Liss, New York. K. Tanaka, P.M. Coates (Eds.).
-
(1990)
Progress in Clinical and Biological Research. Fatty Acid Oxidation. Clinical, Biochemical, and Molecular Aspects
, vol.321
, pp. 291-302
-
-
Stanley, C.A.1
Hale, D.E.2
Coates, P.M.3
-
92
-
-
0025995690
-
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
-
Stanley C.A., Deleeuw S., Coates P.M., et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991, 30:709-716.
-
(1991)
Ann Neurol
, vol.30
, pp. 709-716
-
-
Stanley, C.A.1
Deleeuw, S.2
Coates, P.M.3
-
93
-
-
0026736847
-
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
-
Stanley C.A., Sunaryo F., Hale D.E., et al. Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. J Inherit Metab Dis 1992, 15:785-789.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 785-789
-
-
Stanley, C.A.1
Sunaryo, F.2
Hale, D.E.3
-
94
-
-
84876852659
-
Genotype-phenotype correlations in mitochondrial trifunctional protein deficiency
-
May 21-25, 07, Vienna, Austria, (Abstr)
-
Strauss A.W. Genotype-phenotype correlations in mitochondrial trifunctional protein deficiency. Proceedings of the 7th International Congress of Inborn Errors of Metabolism 1997, 16. May 21-25, 07, Vienna, Austria, (Abstr).
-
(1997)
Proceedings of the 7th International Congress of Inborn Errors of Metabolism
, pp. 16
-
-
Strauss, A.W.1
-
95
-
-
0028817917
-
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
-
Strauss A.W., Powell C.K., Hale D.E., et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci U S A 1995, 92:10496-10500.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 10496-10500
-
-
Strauss, A.W.1
Powell, C.K.2
Hale, D.E.3
-
96
-
-
0027302901
-
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
-
Taroni F., Verderio E., Dworzak F., et al. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 1993, 4:314-320.
-
(1993)
Nat Genet
, vol.4
, pp. 314-320
-
-
Taroni, F.1
Verderio, E.2
Dworzak, F.3
-
99
-
-
0033982824
-
Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy
-
Tein I. Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy. Pediatr Res 2000, 47:6-8.
-
(2000)
Pediatr Res
, vol.47
, pp. 6-8
-
-
Tein, I.1
-
100
-
-
37449034161
-
Metabolic myopathies
-
Mosby-Yearbook, Philadelphia, K.F. Swaiman, S. Ashwal, D. Ferriero (Eds.)
-
Tein I. Metabolic myopathies. Pediatric Neurology 2006, 2023-2073. Mosby-Yearbook, Philadelphia. 4th edn. K.F. Swaiman, S. Ashwal, D. Ferriero (Eds.).
-
(2006)
Pediatric Neurology
, pp. 2023-2073
-
-
Tein, I.1
-
101
-
-
0025026022
-
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
-
Tein I., De Vivo D.C., Bierman F., et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990, 28:247-255.
-
(1990)
Pediatr Res
, vol.28
, pp. 247-255
-
-
Tein, I.1
De Vivo, D.C.2
Bierman, F.3
-
103
-
-
0026076169
-
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy
-
Tein I., De Vivo D.C., Hale D.E., et al. Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 1991, 30:415-419.
-
(1991)
Ann Neurol
, vol.30
, pp. 415-419
-
-
Tein, I.1
De Vivo, D.C.2
Hale, D.E.3
-
104
-
-
0001586606
-
Myoglobinuria
-
Elsevier Science Publishers B.V., Amsterdam, (62), L.P. Rowland, S. DiMauro (Eds.) Handbook of Clinical Neurology
-
Tein I., DiMauro S., Rowland L.P. Myoglobinuria. Myopathies 1992, Vol. 18:553-593. Elsevier Science Publishers B.V., Amsterdam, (62). L.P. Rowland, S. DiMauro (Eds.).
-
(1992)
Myopathies
, vol.18
, pp. 553-593
-
-
Tein, I.1
DiMauro, S.2
Rowland, L.P.3
-
105
-
-
0028955733
-
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone
-
Tein I., Donner E.J., Hale D.E., et al. Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone. Pediatr Neurol 1995, 12:68-76.
-
(1995)
Pediatr Neurol
, vol.12
, pp. 68-76
-
-
Tein, I.1
Donner, E.J.2
Hale, D.E.3
-
106
-
-
0033555567
-
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy
-
Tein I., Halsam R.H., Rhead W.J., et al. Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology 1999, 52:366-372.
-
(1999)
Neurology
, vol.52
, pp. 366-372
-
-
Tein, I.1
Halsam, R.H.2
Rhead, W.J.3
-
107
-
-
0033018283
-
Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil
-
Tein I., Vasjar J., MacMillan L., et al. Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil. Neurology 1999, 52:640-643.
-
(1999)
Neurology
, vol.52
, pp. 640-643
-
-
Tein, I.1
Vasjar, J.2
MacMillan, L.3
-
108
-
-
38049177259
-
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
-
Tein I., Elpeleg O., BenZe'ev B., et al. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab 2008, 93:179-189.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 179-189
-
-
Tein, I.1
Elpeleg, O.2
BenZe'ev, B.3
-
109
-
-
0031584530
-
Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
-
Thompson G.N., Hsu B.Y.L., Pitt J.J., et al. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med 1997, 337:1203-1207.
-
(1997)
N Engl J Med
, vol.337
, pp. 1203-1207
-
-
Thompson, G.N.1
Hsu, B.Y.L.2
Pitt, J.J.3
-
110
-
-
0025261098
-
Metabolic causes of myoglobinuria
-
Tonin P., Lewis P., Servidei S., et al. Metabolic causes of myoglobinuria. Ann Neurol 1990, 27:181-185.
-
(1990)
Ann Neurol
, vol.27
, pp. 181-185
-
-
Tonin, P.1
Lewis, P.2
Servidei, S.3
-
111
-
-
0022542834
-
Serum dicarboxylic acids in patients with Reye syndrome
-
Tonsgard J.H. Serum dicarboxylic acids in patients with Reye syndrome. J Pediatr 1986, 109:440-445.
-
(1986)
J Pediatr
, vol.109
, pp. 440-445
-
-
Tonsgard, J.H.1
-
112
-
-
0021809180
-
Effect of Reye's syndrome serum on isolated chinchilla liver mitochondria
-
Tonsgard J.H., Getz G.S. Effect of Reye's syndrome serum on isolated chinchilla liver mitochondria. J Clin Invest 1985, 76:816-825.
-
(1985)
J Clin Invest
, vol.76
, pp. 816-825
-
-
Tonsgard, J.H.1
Getz, G.S.2
-
113
-
-
0024246260
-
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts
-
Treem W.R., Stanley C.A., Finegold D.N., et al. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N Engl J Med 1988, 319:1331-1336.
-
(1988)
N Engl J Med
, vol.319
, pp. 1331-1336
-
-
Treem, W.R.1
Stanley, C.A.2
Finegold, D.N.3
-
114
-
-
0019830914
-
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy
-
Tripp M.E., Katcher M.L., Peters H.A., et al. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy. N Engl J Med 1981, 305:385-390.
-
(1981)
N Engl J Med
, vol.305
, pp. 385-390
-
-
Tripp, M.E.1
Katcher, M.L.2
Peters, H.A.3
-
115
-
-
0031808147
-
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation
-
Tyni T., Pihko H., Kivela T. Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Curr Eye Res 1998, 17:551-559.
-
(1998)
Curr Eye Res
, vol.17
, pp. 551-559
-
-
Tyni, T.1
Pihko, H.2
Kivela, T.3
-
116
-
-
6344235193
-
Mitochondrial fatty acid (beta) oxidation in the human eye and brain: implications for retinopathy of long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency
-
Tyni T., Paetau A., Strauss A., et al. Mitochondrial fatty acid (beta) oxidation in the human eye and brain: implications for retinopathy of long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 2004, 56:744-750.
-
(2004)
Pediatr Res
, vol.56
, pp. 744-750
-
-
Tyni, T.1
Paetau, A.2
Strauss, A.3
-
117
-
-
0029589517
-
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
-
Uziel G., Garavaglia B., Cicer E., et al. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol 1995, 13:333-335.
-
(1995)
Pediatr Neurol
, vol.13
, pp. 333-335
-
-
Uziel, G.1
Garavaglia, B.2
Cicer, E.3
-
118
-
-
0024402737
-
Essential fatty acid metabolism and requirements during development
-
Uauy R., Treen M., Hoffman D.R. Essential fatty acid metabolism and requirements during development. Semin Perinatol 1989, 13:118-130.
-
(1989)
Semin Perinatol
, vol.13
, pp. 118-130
-
-
Uauy, R.1
Treen, M.2
Hoffman, D.R.3
-
119
-
-
0028859651
-
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
-
Verderio E., Cavadini P., Montermini L., et al. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 1995, 4:19-29.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 19-29
-
-
Verderio, E.1
Cavadini, P.2
Montermini, L.3
-
120
-
-
0024344543
-
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy
-
Wilson G.N., de Chadarevian J.P., Kaplan P., et al. Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. Am J Med Genet 1989, 32:395-401.
-
(1989)
Am J Med Genet
, vol.32
, pp. 395-401
-
-
Wilson, G.N.1
de Chadarevian, J.P.2
Kaplan, P.3
-
121
-
-
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 P.M., et al. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 1993, 34:111-113.
-
(1993)
Pediatr Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Indo, Y.2
Coates, P.M.3
-
122
-
-
34447109475
-
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment
-
Zafeiriou D.I., Vargiami E., Mayapetek E., et al. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Pediatr Neurol 2007, 37:47-50.
-
(2007)
Pediatr Neurol
, vol.37
, pp. 47-50
-
-
Zafeiriou, D.I.1
Vargiami, E.2
Mayapetek, E.3
-
123
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies
-
Ziadeh R., Hoffman E.P., Finegold D.N., et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 1995, 37:675-678.
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
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