-
2
-
-
19444373026
-
In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector
-
Schowalter, DB, Matern, D and Vockley, J (2005). In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector. Mol Genet Metab 85: 88-95.
-
(2005)
Mol Genet Metab
, vol.85
, pp. 88-95
-
-
Schowalter, D.B.1
Matern, D.2
Vockley, J.3
-
3
-
-
30744432678
-
Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector
-
Conlon, TJ, Walter, G, Owen, R, Cossette, T, Erger, K, Gutierrez, G et al. (2006). Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector. Hum Gene Ther 17: 71-80.
-
(2006)
Hum Gene Ther
, vol.17
, pp. 71-80
-
-
Conlon, T.J.1
Walter, G.2
Owen, R.3
Cossette, T.4
Erger, K.5
Gutierrez, G.6
-
4
-
-
58149188897
-
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice
-
Beattie, SG, Goetzman, E, Tang, Q, Conlon, T, Campbell-Thompson, M, Matern, D et al. (2008). Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice. J Gene Med 10: 1113-1123.
-
(2008)
J Gene Med
, vol.10
, pp. 1113-1123
-
-
Beattie, S.G.1
Goetzman, E.2
Tang, Q.3
Conlon, T.4
Campbell-Thompson, M.5
Matern, D.6
-
5
-
-
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, Kamijo, T, Yamaguchi, S, Kelley, RI et al. (1995). Purification of human very-long-chain acyl-coenzyme 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
Kamijo, T.4
Yamaguchi, S.5
Kelley, R.I.6
-
6
-
-
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, Anderson, MM, Ahuja, A, Brackett, JC 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
Anderson, M.M.4
Ahuja, A.5
Brackett, J.C.6
-
7
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program
-
Zytkovicz, TH, Fitzgerald, EF, Marsden, D, Larson, CA, Shih, VE, Johnson, DM et al. (2001). Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945-1955.
-
(2001)
Clin Chem
, vol.47
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
Larson, C.A.4
Shih, V.E.5
Johnson, D.M.6
-
8
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
Wilcken, B, Wiley, V, Hammond, J and Carpenter, K (2003). Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304-2312.
-
(2003)
N Engl J Med
, vol.348
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
-
9
-
-
0036405455
-
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
-
Chace, DH, Kalas, TA and Naylor, EW (2002). The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3: 17-45.
-
(2002)
Annu Rev Genomics Hum Genet
, vol.3
, pp. 17-45
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
10
-
-
0141615880
-
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
-
Spiekerkoetter, U, Sun, B, Zytkovicz, T, Wanders, R, Strauss, AW and Wendel, U (2003). MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143: 335-342.
-
(2003)
J Pediatr
, vol.143
, pp. 335-342
-
-
Spiekerkoetter, U.1
Sun, B.2
Zytkovicz, T.3
Wanders, R.4
Strauss, A.W.5
Wendel, U.6
-
11
-
-
0032509853
-
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
-
Vianey-Saban, C, Divry, P, Brivet, M, Nada, M, Zabot, MT, Mathieu, M et al. (1998). Mitochondrial very-long-chain acyl-coenzyme 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
Nada, M.4
Zabot, M.T.5
Mathieu, M.6
-
12
-
-
33745938940
-
Rhabdomyolysis in the military: Recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency
-
Hoffman, JD, Steiner, RD, Paradise, L, Harding, CO, Ding, L, Strauss, AW et al. (2006). Rhabdomyolysis in the military: Recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil Med 171: 657-658.
-
(2006)
Mil Med
, vol.171
, pp. 657-658
-
-
Hoffman, J.D.1
Steiner, R.D.2
Paradise, L.3
Harding, C.O.4
Ding, L.5
Strauss, A.W.6
-
13
-
-
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 and 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
-
14
-
-
0032080504
-
Efficiency of metabolic screening in childhood cardiomyopathies
-
Bonnet, D, de Lonlay, P, Gautier, I, Rustin, P, Rotig, A, Kachaner, J et al. (1998). Efficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J 19: 790-793.
-
(1998)
Eur Heart J
, vol.19
, pp. 790-793
-
-
Bonnet, D.1
de Lonlay, P.2
Gautier, I.3
Rustin, P.4
Rotig, A.5
Kachaner, J.6
-
15
-
-
0032729717
-
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
-
Bonnet, D, Martin, D, Pascale De, L, Villain, E, Jouvet, P, Rabier, D et al. (1999). Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100: 2248-2253.
-
(1999)
Circulation
, vol.100
, pp. 2248-2253
-
-
Bonnet, D.1
Martin, D.2
Pascale De, L.3
Villain, E.4
Jouvet, P.5
Rabier, D.6
-
16
-
-
0032145996
-
Fatty acid β-oxidation deficiency masquerading as fulminant myocarditis
-
de Lonlay-Debeney, P, Fournet, JC and Bonnet, D (1998). Fatty acid β-oxidation deficiency masquerading as fulminant myocarditis. Int J Cardiol 65: 287-289.
-
(1998)
Int J Cardiol
, vol.65
, pp. 287-289
-
-
de Lonlay-Debeney, P.1
Fournet, J.C.2
Bonnet, D.3
-
17
-
-
0345700708
-
A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: Recognizing fatty acid oxidation defects in adults
-
Kluge, S, Kuhnelt, P, Block, A, Merkel, M, Gocht, A, Lukacs, Z et al. (2003). A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: Recognizing fatty acid oxidation defects in adults. Crit Care Med 31: 1273-1276.
-
(2003)
Crit Care Med
, vol.31
, pp. 1273-1276
-
-
Kluge, S.1
Kuhnelt, P.2
Block, A.3
Merkel, M.4
Gocht, A.5
Lukacs, Z.6
-
18
-
-
0034956576
-
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
-
Chace, DH, DiPerna, JC, Mitchell, BL, Sgroi, B, Hofman, LF and Naylor, EW (2001). Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 47: 1166-1182.
-
(2001)
Clin Chem
, vol.47
, pp. 1166-1182
-
-
Chace, D.H.1
DiPerna, J.C.2
Mitchell, B.L.3
Sgroi, B.4
Hofman, L.F.5
Naylor, E.W.6
-
19
-
-
0036171573
-
Defects of mitochondrial β-oxidation: A growing group of disorders
-
Vockley, J and Whiteman, DA (2002). Defects of mitochondrial β-oxidation: A growing group of disorders. Neuromuscul Disord 12: 235-246.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 235-246
-
-
Vockley, J.1
Whiteman, D.A.2
-
20
-
-
0036884407
-
Management of fatty acid oxidation disorders: A survey of current treatment strategies
-
Solis, JO and Singh, RH (2002). Management of fatty acid oxidation disorders: A survey of current treatment strategies. J Am Diet Assoc 102: 1800-1803.
-
(2002)
J Am Diet Assoc
, vol.102
, pp. 1800-1803
-
-
Solis, J.O.1
Singh, R.H.2
-
21
-
-
0030919172
-
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency
-
Straussberg, R, Harel, L, Varsano, I, Elpeleg, ON, Shamir, R and Amir, J (1997). Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. Pediatrics 99: 894-896.
-
(1997)
Pediatrics
, vol.99
, pp. 894-896
-
-
Straussberg, R.1
Harel, L.2
Varsano, I.3
Elpeleg, O.N.4
Shamir, R.5
Amir, J.6
-
22
-
-
0031775494
-
Adeno-associated virus as a vector for liver-directed gene therapy
-
Xiao, W, Berta, SC, Lu, MM, Moscioni, AD, Tazelaar, J and Wilson, JM (1998). Adeno-associated virus as a vector for liver-directed gene therapy. J Virol 72: 10222-10226.
-
(1998)
J Virol
, vol.72
, pp. 10222-10226
-
-
Xiao, W.1
Berta, S.C.2
Lu, M.M.3
Moscioni, A.D.4
Tazelaar, J.5
Wilson, J.M.6
-
23
-
-
0141482003
-
Preclinical in vivo evaluation of pseudotyped adeno-associated virus vectors for liver gene therapy
-
Grimm, D, Zhou, S, Nakai, H, Thomas, CE, Storm, TA, Fuess, S et al. (2003). Preclinical in vivo evaluation of pseudotyped adeno-associated virus vectors for liver gene therapy. Blood 102: 2412-2419.
-
(2003)
Blood
, vol.102
, pp. 2412-2419
-
-
Grimm, D.1
Zhou, S.2
Nakai, H.3
Thomas, C.E.4
Storm, T.A.5
Fuess, S.6
-
24
-
-
33747600886
-
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
-
Koeberl, DD, Sun, BD, Damodaran, TV, Brown, T, Millington, DS, Benjamin, DK Jr et al. (2006). Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther 13: 1281-1289.
-
(2006)
Gene Ther
, vol.13
, pp. 1281-1289
-
-
Koeberl, D.D.1
Sun, B.D.2
Damodaran, T.V.3
Brown, T.4
Millington, D.S.5
Benjamin Jr, D.K.6
-
25
-
-
33745118671
-
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors
-
Moscioni, D, Morizono, H, McCarter, RJ, Stern, A, Cabrera-Luque, J, Hoang, A et al. (2006). Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Mol Ther 14: 25-33.
-
(2006)
Mol Ther
, vol.14
, pp. 25-33
-
-
Moscioni, D.1
Morizono, H.2
McCarter, R.J.3
Stern, A.4
Cabrera-Luque, J.5
Hoang, A.6
-
27
-
-
19644378907
-
Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart
-
Wang, Z, Zhu, T, Qiao, C, Zhou, L, Wang, B, Zhang, J et al. (2005). Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol 23: 321-328.
-
(2005)
Nat Biotechnol
, vol.23
, pp. 321-328
-
-
Wang, Z.1
Zhu, T.2
Qiao, C.3
Zhou, L.4
Wang, B.5
Zhang, J.6
-
28
-
-
33746313507
-
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
-
Merritt, JL 2nd, Matern, D, Vockley, J, Daniels, J, Nguyen, TV and Schowalter, DB. (2006). In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase. Mol Genet Metab 88: 351-358.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 351-358
-
-
Merritt 2nd, J.L.1
Matern, D.2
Vockley, J.3
Daniels, J.4
Nguyen, T.V.5
Schowalter, D.B.6
-
29
-
-
0034782503
-
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
-
Cox, KB, Hamm, DA, Millington, DS, Matern, D, Vockley, J, Rinaldo, P et al. (2001). Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet 10: 2069-2077.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2069-2077
-
-
Cox, K.B.1
Hamm, D.A.2
Millington, D.S.3
Matern, D.4
Vockley, J.5
Rinaldo, P.6
-
30
-
-
0032540533
-
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane
-
Souri, M, Aoyama, T, Hoganson, G and Hashimoto, T (1998). Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. FEBS Lett 426: 187-190.
-
(1998)
FEBS Lett
, vol.426
, pp. 187-190
-
-
Souri, M.1
Aoyama, T.2
Hoganson, G.3
Hashimoto, T.4
-
31
-
-
0026586140
-
Expression of human alpha 1-antitrypsin in dogs after autologous transplantation of retroviral transduced hepatocytes
-
Kay, MA, Baley, P, Rothenberg, S, Leland, F, Fleming, L, Ponder, KP et al. (1992). Expression of human alpha 1-antitrypsin in dogs after autologous transplantation of retroviral transduced hepatocytes. Proc Natl Acad Sci USA 89: 89-93.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 89-93
-
-
Kay, M.A.1
Baley, P.2
Rothenberg, S.3
Leland, F.4
Fleming, L.5
Ponder, K.P.6
-
32
-
-
34748831166
-
Efficiency of eight different AAV serotypes in transducing rat myocardium in vivo
-
Palomeque, J, Chemaly, ER, Colosi, P, Wellman, JA, Zhou, S, Del Monte, F et al. (2007). Efficiency of eight different AAV serotypes in transducing rat myocardium in vivo. Gene Ther 14: 989-997.
-
(2007)
Gene Ther
, vol.14
, pp. 989-997
-
-
Palomeque, J.1
Chemaly, E.R.2
Colosi, P.3
Wellman, J.A.4
Zhou, S.5
Del Monte, F.6
-
33
-
-
44049083209
-
Immunity to adeno-associated virus vectors in animals and humans: A continued challenge
-
Zaiss, AK and Muruve, DA (2008). Immunity to adeno-associated virus vectors in animals and humans: A continued challenge. Gene Ther 15: 808-816.
-
(2008)
Gene Ther
, vol.15
, pp. 808-816
-
-
Zaiss, A.K.1
Muruve, D.A.2
-
34
-
-
27744533046
-
Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II
-
Franco, LM, Sun, B, Yang, X, Bird, A, Zhang, H, Schneider, A et al. (2005). Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther 12: 876-884.
-
(2005)
Mol Ther
, vol.12
, pp. 876-884
-
-
Franco, L.M.1
Sun, B.2
Yang, X.3
Bird, A.4
Zhang, H.5
Schneider, A.6
|