-
2
-
-
0019218108
-
Comparative studies of biliary atresia in the human newborn and reovirus-induced cholangitis in weanling mics
-
Bangaru B, Morecki R, Glaser JH, Gartner LM, Horwitz MS. Comparative studies of biliary atresia in the human newborn and reovirus-induced cholangitis in weanling mics. Lab Invest 1980; 43:456-62.
-
(1980)
Lab Invest
, vol.43
, pp. 456-462
-
-
Bangaru, B.1
Morecki, R.2
Glaser, J.H.3
Gartner, L.M.4
Horwitz, M.S.5
-
3
-
-
0027522745
-
Group A rotaviruses produce extrahepatic biliary obstruction in orally inoculated newborn mice
-
Riepenhoff-Talty M, Schaekel K, Clark HF, Mueller W, Uhnoo I, Rossi T, Fisher J, Ogra PL. Group A rotaviruses produce extrahepatic biliary obstruction in orally inoculated newborn mice. Pediatr Res 1993;33:394-99.
-
(1993)
Pediatr Res
, vol.33
, pp. 394-399
-
-
Riepenhoff-Talty, M.1
Schaekel, K.2
Clark, H.F.3
Mueller, W.4
Uhnoo, I.5
Rossi, T.6
Fisher, J.7
Ogra, P.L.8
-
4
-
-
0027469076
-
The pathogenesis of biliary atresia: A morphological study of the hepatobiliary system and the hepatic artery
-
Ho C-W, Shioda K, Shirasaki K, Takahashi S, Tokimatsu S, Maeda K. The pathogenesis of biliary atresia: A morphological study of the hepatobiliary system and the hepatic artery. J Pediatr Gastroenterol Nutr 1993;16:53-60.
-
(1993)
J Pediatr Gastroenterol Nutr
, vol.16
, pp. 53-60
-
-
Ho, C.-W.1
Shioda, K.2
Shirasaki, K.3
Takahashi, S.4
Tokimatsu, S.5
Maeda, K.6
-
5
-
-
0016763234
-
Unsaturated monohydroxy bile acids as a cause of idiopathic obstructive cholangiopathy
-
Jenner RE, Howard ER. Unsaturated monohydroxy bile acids as a cause of idiopathic obstructive cholangiopathy. Lancet 1975;2:1073-75.
-
(1975)
Lancet
, vol.2
, pp. 1073-1075
-
-
Jenner, R.E.1
Howard, E.R.2
-
6
-
-
0027536864
-
Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations
-
Carmi R, Magee CA, Neill CA, Karrer FM. Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations. Am J Med Genet 1993;45:683-93.
-
(1993)
Am J Med Genet
, vol.45
, pp. 683-693
-
-
Carmi, R.1
Magee, C.A.2
Neill, C.A.3
Karrer, F.M.4
-
7
-
-
0026718314
-
Fatty acid oxidation disorders: A new class of metabolic diseases
-
Hale DE, Bennett MJ. 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
-
8
-
-
0000576457
-
Mitochondrial fatty acid oxidation disorders
-
Scriver CR, Beudet, AL, Eds. New York: McGraw-Hill
-
Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beudet, AL, Eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001: 1501-33.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1501-1533
-
-
Roe, C.R.1
Coates, P.M.2
-
9
-
-
0033004986
-
Recognition and management of fatty acid oxidation defects: A series of 107 patients
-
Saudubray JM, Martin D, De Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefunt JP, Rabier D, Kamoun P, Brivet M. Recognition and management of fatty acid oxidation defects: A series of 107 patients. J Inherited Metab Dis 1999;22:408-502.
-
(1999)
J Inherited Metab Dis
, vol.22
, pp. 408-502
-
-
Saudubray, J.M.1
Martin, D.2
De Lonlay, P.3
Touati, G.4
Poggi-Travert, F.5
Bonnet, D.6
Jouvet, P.7
Boutron, M.8
Slama, A.9
Vianey-Saban, C.10
Bonnefunt, J.P.11
Rabier, D.12
Kamoun, P.13
Brivet, M.14
-
10
-
-
0026515859
-
Novel fatty acid b-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 b-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
-
11
-
-
0030856404
-
Genomic and mutational analysis of the mitochondrial trifunctional protein b-subunit (HADHB) gene in patients with trifunctional protein deficiency
-
Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T. Genomic and mutational analysis of the mitochondrial trifunctional protein b-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Molec Genet 1997;6:1215-24.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 1215-1224
-
-
Orii, K.E.1
Aoyama, T.2
Wakui, K.3
Fukushima, Y.4
Miyajima, H.5
Yamaguchi, S.6
Orii, T.7
Kondo, N.8
Hashimoto, T.9
-
12
-
-
0029976189
-
Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both a and b-subunits
-
Ushikubo S, Aoyama T, Kamijo T, Wanders RJA, Rinaldo P, Vockley J, Hashimoto T. Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both a and b-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
Hashimoto, T.7
-
13
-
-
0025242644
-
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
-
Rocchiccioli F, Wanders RJA, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres P-F. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 1990;28: 657-62.
-
(1990)
Pediatr Res
, vol.28
, pp. 657-662
-
-
Rocchiccioli, F.1
Wanders, R.J.A.2
Aubourg, P.3
Vianey-Liaud, C.4
Ijlst, L.5
Fabre, M.6
Cartier, N.7
Bougneres, P.-F.8
-
14
-
-
0029020112
-
Long-chain 3-hydroxyacyl-CoA dehydrogase deficiency: High frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
-
Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter JPN, De Klerk JBC, Wanders RJA. Long-chain 3-hydroxyacyl-CoA dehydrogase deficiency: High frequency of the G1528C mutation with no apparent correlation with the clinical phenotype. J Inherited Metab Dis 1995;18:241-44.
-
(1995)
J Inherited Metab Dis
, vol.18
, pp. 241-244
-
-
Ijlst, L.1
Uskikubo, S.2
Kamijo, T.3
Hashimoto, T.4
Ruiter, J.P.N.5
De Klerk, J.B.C.6
Wanders, R.J.A.7
-
15
-
-
0029933864
-
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJA. The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol 1996;14:236-43.
-
(1996)
Pediatr Neurol
, vol.14
, pp. 236-243
-
-
Pons, R.1
Roig, M.2
Riudor, E.3
Ribes, A.4
Briones, P.5
Ortigosa, L.6
Baldellou, A.7
Gil-Gibernau, J.8
Olesti, M.9
Navarro, C.10
Wanders, R.J.A.11
-
16
-
-
0030775662
-
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
-
Tyni T, Palotie A, Vinikka L, Valanne L, Salo MK, von Doebeln U, Jackson S, Wanders R, Venizelos N, Pihko H. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients. J Pediatr 1997;130:67-76.
-
(1997)
J Pediatr
, vol.130
, pp. 67-76
-
-
Tyni, T.1
Palotie, A.2
Vinikka, L.3
Valanne, L.4
Salo, M.K.5
Von Doebeln, U.6
Jackson, S.7
Wanders, R.8
Venizelos, N.9
Pihko, H.10
-
17
-
-
0026458561
-
Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid b-oxidation
-
Wanders RJA, Ijlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray J-M. Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid b-oxidation. Biochem Biophys Res Commun 1992;188:1139-45.
-
(1992)
Biochem Biophys Res Commun
, 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
Rabier, D.7
Saudubray, J.-M.8
-
18
-
-
0026488067
-
Combined enzyme defect of mitochondrial fatty acid oxidation
-
Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnbull DM. 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
Gardner-Medwin, D.7
Turnbull, D.M.8
-
19
-
-
0028353551
-
Mitochondrial trifunctional protein deficiency: Catalytic heterogeneity of the mutant enzyme in two patients
-
Kamijo T, Wanders RJA, Saudubray J-M, Aoyama T, Komiyama A, Hashimoto T. Mitochondrial trifunctional protein deficiency: Catalytic heterogeneity of the mutant enzyme in two patients. J Clin Invest 1994;93:1740-47.
-
(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
-
20
-
-
0028956322
-
Two α subunit donor splice site mutations cause human trifunctional protein deficiency
-
Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW. Two α 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
Strauss, A.W.7
-
21
-
-
0029847961
-
Hypoparathyroidism in mitochondrial trifunctional protein deficiency
-
Dionisi-Vici C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 1996;129:159-62.
-
(1996)
J Pediatr
, vol.129
, pp. 159-162
-
-
Dionisi-Vici, C.1
Garavaglia, B.2
Burlina, A.B.3
Bertini, E.4
Saponara, I.5
Sabetta, G.6
Taroni, F.7
|