-
1
-
-
0026515859
-
Novel fatty acid β-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. Novel fatty acid β-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. J Biol Chem 1992;267:1034-41.
-
(1992)
J Biol Chem
, vol.267
, pp. 1034-1041
-
-
Uchida, Y.1
Izai, K.2
Orii, T.3
Hashimoto, T.4
-
2
-
-
0026488067
-
Combined enzyme defect of mitochondrial fatty acid oxidation
-
Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 1992;90:1219-25.
-
(1992)
J Clin Invest
, vol.90
, pp. 1219-1225
-
-
Jackson, S.1
Kler, R.S.2
Bartlett, K.3
Briggs, H.4
Bindoff, L.A.5
Pourfarzam, M.6
-
3
-
-
0028223596
-
Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein
-
Kamijo T, Aoyama T, Komiyama A, Hashimoto T. Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein. Biochem Biophys Res Comm 1994;199:818-25.
-
(1994)
Biochem Biophys Res Comm
, vol.199
, pp. 818-825
-
-
Kamijo, T.1
Aoyama, T.2
Komiyama, A.3
Hashimoto, T.4
-
4
-
-
0029835610
-
Common missense mutation E474Q in long-chain 3-hydroxyacyl-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 JPN, Hoovers JMN, Jakobs ME, Wanders RJA. Common missense mutation E474Q in long-chain 3-hydroxyacyl-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 1996;98:1028-33.
-
(1996)
J Clin Invest
, vol.98
, pp. 1028-1033
-
-
IJlst, L.1
Ruiter, J.P.N.2
Hoovers, J.M.N.3
Jakobs, M.E.4
Wanders, R.J.A.5
-
5
-
-
0029976189
-
Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits
-
Ushikubo S, Aoyama T, Kamijo T, Wanders RJA, Rinaldo P, Vockley J, et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both α- and β-subunits. Am J Hum Genet 1996;58:979-88.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 979-988
-
-
Ushikubo, S.1
Aoyama, T.2
Kamijo, T.3
Wanders, R.J.A.4
Rinaldo, P.5
Vockley, J.6
-
6
-
-
0024353075
-
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
-
Wanders RJA, Duran M, IJlst L, de Jager JP, van Gennip AH, Jakobs C, et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 1989;2:52-3.
-
(1989)
Lancet
, vol.2
, pp. 52-53
-
-
Wanders, R.J.A.1
Duran, M.2
IJlst, L.3
De Jager, J.P.4
Van Gennip, A.H.5
Jakobs, C.6
-
7
-
-
0029063809
-
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Hagenfeldt L, Venizelos N, von Dobeln U. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995;18:245-8.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 245-248
-
-
Hagenfeldt, L.1
Venizelos, N.2
Von Dobeln, U.3
-
8
-
-
0028353551
-
Mitochondrial trifunctional protein deficiency
-
Kamijo T, Wanders RJA, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T. Mitochondrial trifunctional protein deficiency. J Clin Invest 1994;93:1740-7.
-
(1994)
J Clin Invest
, vol.93
, pp. 1740-1747
-
-
Kamijo, T.1
Wanders, R.J.A.2
Saudubray, J.M.3
Aoyama, T.4
Komiyama, A.5
Hashimoto, T.6
-
9
-
-
0028956322
-
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
-
Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, et al. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. J Clin Invest 1995;95:2076-82.
-
(1995)
J Clin Invest
, vol.95
, pp. 2076-2082
-
-
Brackett, J.C.1
Sims, H.F.2
Rinaldo, P.3
Shapiro, S.4
Powell, C.K.5
Bennett, M.J.6
-
10
-
-
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, Bennett MJ, IJlst L, Gibson B, et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 1998;102:1193-9.
-
(1998)
J Clin Invest
, vol.102
, pp. 1193-1199
-
-
Ibdah, J.A.1
Tein, I.2
Dionisi-Vici, C.3
Bennett, M.J.4
IJlst, L.5
Gibson, B.6
-
11
-
-
0033519714
-
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
-
Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999;340:1723-31.
-
(1999)
N Engl J Med
, vol.340
, pp. 1723-1731
-
-
Ibdah, J.A.1
Bennett, M.J.2
Rinaldo, P.3
Zhao, Y.4
Gibson, B.5
Sims, H.F.6
-
12
-
-
0031981027
-
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 1998;178:603-8.
-
(1998)
Am J Obstet Gynecol
, vol.178
, pp. 603-608
-
-
Tyni, T.1
Ekholm, E.2
Pihko, H.3
-
13
-
-
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, Treem WR, Hale DE, Bennett MJ, 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;92:841-5.
-
(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
Treem, W.R.4
Hale, D.E.5
Bennett, M.J.6
-
14
-
-
0032845048
-
Long-chain 3-hydroxyacyl-CoA deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcemia
-
Ibdah JA, Dasouki MJ, Strauss AW. Long-chain 3-hydroxyacyl-CoA deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcemia. J Inherit Metab Dis 1999;22:811-4.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 811-814
-
-
Ibdah, J.A.1
Dasouki, M.J.2
Strauss, A.W.3
-
15
-
-
0035089930
-
Molecular prenatal diagnosis in families with mitochondrial trifunctional protein mutations
-
Ibdah JA, Zhao Y, Viola J, Gibson B, Bennett MJ, Strauss AW. Molecular prenatal diagnosis in families with mitochondrial trifunctional protein mutations. J Pediatr 2001;138:396-9.
-
(2001)
J Pediatr
, vol.138
, pp. 396-399
-
-
Ibdah, J.A.1
Zhao, Y.2
Viola, J.3
Gibson, B.4
Bennett, M.J.5
Strauss, A.W.6
-
16
-
-
0029761214
-
Liver disease in pregnancy
-
Knox TA, Olans LB. Liver disease in pregnancy. N Engl J Med 1996;335:569-76.
-
(1996)
N Engl J Med
, vol.335
, pp. 569-576
-
-
Knox, T.A.1
Olans, L.B.2
-
17
-
-
0032976655
-
Liver disease in the pregnant patient
-
Riely CA. Liver disease in the pregnant patient. Am J Gastroenterol 1999;94:1728-32.
-
(1999)
Am J Gastroenterol
, vol.94
, pp. 1728-1732
-
-
Riely, C.A.1
-
18
-
-
0026458561
-
Human trifunctional protein deficiency
-
Wanders RJA, IJlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, et al. Human trifunctional protein deficiency. Biochem Biophys Res Comm 1992;188:1139-45.
-
(1992)
Biochem Biophys Res Comm
, vol.188
, pp. 1139-1145
-
-
Wanders, R.J.A.1
IJlst, L.2
Poggi, F.3
Bonnefont, J.P.4
Munnich, A.5
Brivet, M.6
-
19
-
-
0004265596
-
-
New York: Wiley
-
Ausube FM, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K. Current protocols in molecular biology. New York: Wiley; 1994. p. 1.7.1-.15
-
(1994)
Current protocols in molecular biology
, pp. 171-215
-
-
Ausube, F.M.1
Kingston, R.E.2
Moore, D.D.3
Seidman, J.G.4
Smith, J.A.5
Struhl, K.6
-
20
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
21
-
-
0030024504
-
A United States national reference for fetal growth
-
Alexander GR, Himes JH, Kaufman RB, Mor J, Kogan M. A United States national reference for fetal growth. Obstet Gynecol 1996;87:163-8.
-
(1996)
Obstet Gynecol
, vol.87
, pp. 163-168
-
-
Alexander, G.R.1
Himes, J.H.2
Kaufman, R.B.3
Mor, J.4
Kogan, M.5
-
22
-
-
0033982975
-
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
-
Innes AM, Seargeant LE, Balachandra K, Roe CR, Wanders RJA, Ruiter JPN, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res 2000;47:43-5.
-
(2000)
Pediatr Res
, vol.47
, pp. 43-45
-
-
Innes, A.M.1
Seargeant, L.E.2
Balachandra, K.3
Roe, C.R.4
Wanders, R.J.A.5
Ruiter, J.P.N.6
-
23
-
-
0033941464
-
The HELLP syndrome associated with fetal medium-chain zcyl-CoA dehydrogenase deficiency
-
Nelson J, Lewis B, Walters B. The HELLP syndrome associated with fetal medium-chain zcyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2000;23:518-9.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 518-519
-
-
Nelson, J.1
Lewis, B.2
Walters, B.3
-
24
-
-
0035054242
-
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency
-
Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, et al. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 2001;138:585-8.
-
(2001)
J Pediatr
, vol.138
, pp. 585-588
-
-
Matern, D.1
Hart, P.2
Murtha, A.P.3
Vockley, J.4
Gregersen, N.5
Millington, D.S.6
-
25
-
-
0034987233
-
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
-
Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, et al. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 2001;107:1403-9.
-
(2001)
J Clin Invest
, vol.107
, pp. 1403-1409
-
-
Ibdah, J.A.1
Paul, H.2
Zhao, Y.3
Binford, S.4
Salleng, K.5
Cline, M.6
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