-
1
-
-
0027295763
-
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
-
DOI 10.1006/bbrc.1993.1368
-
Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, et al. A novel disease with defi ciency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 1993;191:1369-72. (Pubitemid 23231641)
-
(1993)
Biochemical and Biophysical Research Communications
, vol.191
, Issue.3
, pp. 1369-1372
-
-
Aoyama, T.1
Uchida, Y.2
Kelley, R.I.3
Marble, M.4
Hofman, K.5
Tonsgard, J.H.6
Rhead, W.J.7
Hashimoto, T.8
-
2
-
-
0029078041
-
Purifi cation 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. Purifi cation of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Investig 1993;95:2465-73.
-
(1993)
J Clin Investig
, vol.95
, pp. 2465-73
-
-
Aoyama, T.1
Souri, M.2
Ushikubo, S.3
Kamijo, T.4
Yamaguchi, S.5
Kelley, R.I.6
-
3
-
-
0032509853
-
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
-
DOI 10.1016/S0009-8981(97)00185-X, PII S000989819700185X
-
Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, et al. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 1998;269:43-62. (Pubitemid 28048705)
-
(1998)
Clinica Chimica Acta
, vol.269
, Issue.1
, pp. 43-62
-
-
Vianey-Saban, C.1
Divry, P.2
Brivet, M.3
Nada, M.4
Zabot, M.-T.5
Mathieu, M.6
Roe, C.7
-
4
-
-
0036884407
-
Management of fatty acid oxidation disorders: A survey of current treatment strategies
-
DOI 10.1016/S0002-8223(02)90386-X
-
Solis JO, Singh RH. Management of fatty acid oxidation disorders: A survey of current treatment strategies. J Am Diet Assoc 2002;102:1800-3. (Pubitemid 40434064)
-
(2002)
Journal of the American Dietetic Association
, vol.102
, Issue.12
, pp. 1800-1803
-
-
Solis, J.O.1
Singh, R.H.2
-
5
-
-
0029881587
-
Cloning and characterization of human very long-chain acyl- CoA dehydrogenase cDNA, chromosomal assignment of the gene, and identifi cation in four patients of nine different mutations within the VLCAD gene
-
Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, et al. Cloning and characterization of human very long-chain acyl- CoA dehydrogenase cDNA, chromosomal assignment of the gene, and identifi cation in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 1996;5:461-72.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 461-72
-
-
Andresen, B.S.1
Bross, P.2
Vianey-Saban, C.3
Divry, P.4
Zabot, M.T.5
Roe, C.R.6
-
6
-
-
15144355032
-
Acute, severe cardiomyopathy as main symptom of late-onset very long- chain acyl-coenzyme A dehydrogenase deficiency
-
DOI 10.1007/s004310050984
-
Parini R, Menni F, Garavaglia B, Fesslova V, Melotti D, Massone ML, et al. Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase defi ciency. Eur J Pediatr 1998;157:992-5. (Pubitemid 28559750)
-
(1998)
European Journal of Pediatrics
, vol.157
, Issue.12
, pp. 992-995
-
-
Parini, R.1
Menni, F.2
Garavaglia, B.3
Fesslova, V.4
Melotti, D.5
Massone, M.L.6
Lamantea, E.7
Rimoldi, M.8
Vizziello, P.9
Gatti, R.10
-
7
-
-
0033574265
-
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
-
Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, et al. Molecular heterogeneity in verylong- chain acyl-CoA dehydrogenase defi ciency causing pediatric cardiomyopathy and sudden death. Circulation 1999;99:1337-43. (Pubitemid 29129919)
-
(1999)
Circulation
, vol.99
, Issue.10
, pp. 1337-1343
-
-
Mathur, A.1
Sims, H.F.2
Gopalakrishnan, D.3
Gibson, B.4
Rinaldo, P.5
Vockley, J.6
Hug, G.7
Strauss, A.W.8
-
8
-
-
0031904074
-
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
-
Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, et al. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long chain acyl-coenzyme A dehydrogenase defi ciency. J Pediatr 1998;133:247-53. (Pubitemid 28385203)
-
(1998)
Journal of Pediatrics
, vol.133
, Issue.2
, pp. 247-253
-
-
Cox, G.F.1
Souri, M.2
Aoyama, T.3
Rockenmacher, S.4
Varvogli, L.5
Rohr, F.6
Hashimoto, T.7
Korson, M.S.8
-
9
-
-
0033928478
-
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency
-
Roe CR, Wiltse HE, Sweetman L, Alvarado LL. Death caused by preoperative fasting and sedation in a child with unrecognized very long-chain acyl-coenzyme A dehydrogenase defi ciency. J Pediatr 2000;136:397-9. (Pubitemid 30470966)
-
(2000)
Journal of Pediatrics
, vol.136
, Issue.3
, pp. 397-399
-
-
Roe, C.R.1
Wiltse, H.E.2
Sweetman, L.3
Alvarado, L.L.4
-
10
-
-
67349091111
-
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) defi ciency
-
Laforět P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) defi ciency. Neuromuscul Disord 2009;19:324-9.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 324-9
-
-
Laforět, P.1
Acquaviva-Bourdain, C.2
Rigal, O.3
Brivet, M.4
Penisson-Besnier, I.5
Chabrol, B.6
-
11
-
-
0030657403
-
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management
-
Sluysmans T, Tuerlinckx D, Hubinont C, Verellen- Dumoulin C, Brivet M, Vianey-Saban C. Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management. J Pediatr 1997;131:444-6. (Pubitemid 27495208)
-
(1997)
Journal of Pediatrics
, vol.131
, Issue.3
, pp. 444-446
-
-
Sluysmans, T.1
Tuerlinckx, D.2
Hubinont, C.3
Verellen-Dumoulin, C.4
Brivet, M.5
Vianey-Saban, C.6
-
12
-
-
60649111860
-
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase defi ciency
-
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase defi ciency. Mol Genet Metab 2009;96:85-90.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 85-90
-
-
Arnold, G.L.1
Van Hove, J.2
Freedenberg, D.3
Strauss, A.4
Longo, N.5
Burton, B.6
-
13
-
-
69449103722
-
Treatment recommendations in long-chain fatty acid oxidation defects: Consensus from a workshop
-
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al. Treatment recommendations in long-chain fatty acid oxidation defects: Consensus from a workshop. J Inherit Metab Dis 2009;32:498-505.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 498-505
-
-
Spiekerkoetter, U.1
Lindner, M.2
Santer, R.3
Grotzke, M.4
Baumgartner, M.R.5
Boehles, H.6
-
14
-
-
0033968629
-
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
-
DOI 10.1016/S0887-8994(99)00132-0, PII S0887899499001320
-
Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, et al. Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase defi ciency. Pediatr Neurol 2000;22:98-105. (Pubitemid 30109328)
-
(2000)
Pediatric Neurology
, vol.22
, Issue.2
, pp. 98-105
-
-
Pons, R.1
Cavadini, P.2
Baratta, S.3
Invernizzi, F.4
Lamantea, E.5
Garavaglia, B.6
Taroni, F.7
-
15
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, et al. Clear correlation of genotype with disease phenotype in very long-chain acyl-CoA dehydrogenase defi ciency. Am J Hum Genet 1999;64:479-94. (Pubitemid 129500530)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.2
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.J.H.M.3
Scholte, H.R.4
Vianey-Saban, C.5
Wanders, R.6
Ijlst, L.7
Morris, A.8
Pourfarzam, M.9
Bartlett, K.10
Baumgartner, E.R.11
DeKlerk, J.B.C.12
Schroeder, L.D.13
Corydon, T.J.14
Lund, H.15
Winter, V.16
Bross, P.17
Bolund, L.18
Gregersen, N.19
-
16
-
-
77950367893
-
Compared effects of missense mutations in Very-Long- Chain Acyl-CoA Dehydrogenase defi ciency: Combined analysis by structural functional and pharmacological approaches
-
Gobin-Limballe S, McAndrew RP, Djouadi F, Kim JJ, Bastin J. Compared effects of missense mutations in Very-Long- Chain Acyl-CoA Dehydrogenase defi ciency: Combined analysis by structural, functional and pharmacological approaches. Biochim Biophys Acta 2010;1802:478-84.
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 478-84
-
-
Gobin-Limballe, S.1
McAndrew, R.P.2
Djouadi, F.3
Kim, J.J.4
Bastin, J.5
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