T. Aoyama, Y. Uchida, R. I. Kelley, M. Marble, K. Hofman et al., A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase, Biochem Biophys Res Commun, vol.191, pp.1369-1372, 1993.

N. Gregersen, B. S. Andresen, M. J. Corydon, T. J. Corydon, R. K. Olsen et al., Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship, Hum Mutat, vol.18, pp.169-189, 2001.

A. Boneh, B. S. Andresen, N. Gregersen, M. Ibrahim, N. Tzanakos et al., VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis, Mol Genet Metab, vol.88, pp.166-170, 2006.

M. Liebig, I. Schymik, M. Mueller, U. Wendel, E. Mayatepek et al., Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels, Pediatrics, vol.118, pp.1065-1069, 2006.

B. S. Andresen, S. Olpin, B. J. Poorthuis, H. R. Scholte, C. Vianey-saban et al., Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, Am J Hum Genet, vol.64, pp.479-494, 1999.

S. Kluge, P. Kuhnelt, A. Block, M. Merkel, A. Gocht et al., A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults, Crit Care Med, vol.31, pp.1273-1276, 2003.

N. Gregersen, P. Bross, and B. S. Andresen, Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases: molecular pathogenesis and genotype-phenotype relationships, Eur J Biochem, vol.271, pp.470-482, 2004.

C. R. Roe, L. Sweetman, D. S. Roe, F. David, and H. Brunengraber, Treatment of cardiomyopathy and rhabdomyolysis in longchain fat oxidation disorders using an anaplerotic odd-chain triglyceride, J Clin Invest, vol.110, pp.259-269, 2002.

Z. Cai, A. Taddei, and D. N. Sheppard, Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentiators of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl-channel, J Biol Chem, vol.281, pp.1970-1977, 2006.

T. K. Chaudhuri and S. Paul, Protein-misfolding diseases and chaperone-based therapeutic approaches, FEBS J, vol.273, pp.1331-1349, 2006.

G. Parenti, A. Zuppaldi, G. Pittis, M. , R. Tuzzi et al., Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease, Mol Ther, vol.15, pp.508-514, 2007.

E. R. Pearson, I. Flechtner, P. R. Njolstad, M. T. Malecki, S. E. Flanagan et al., Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations, N Engl J Med, vol.355, pp.467-477, 2006.

F. Djouadi, F. Aubey, D. Schlemmer, and J. Bastin, Peroxisome proliferator activated receptor d (PPARd) agonist but not PPARa corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells, J Clin Endocrinol Metab, vol.90, pp.1791-1797, 2005.

F. Djouadi, J. P. Bonnefont, L. Thuillier, V. Droin, N. Kadhom et al., Correction of fatty acid oxidation in carnitine palmitoyl transferase II-deficient cultured skin fibroblasts by bezafibrate, Pediatr Res, vol.54, pp.446-451, 2003.

A. Tenenbaum, M. Motro, and E. Z. Fisman, Dual and panperoxisome proliferator-activated receptors (PPAR) co-agonism: the bezafibrate lessons, Cardiovasc Diabetol, vol.4, p.14, 2005.

F. Djouadi, F. Aubey, D. Schlemmer, J. P. Ruiter, R. J. Wanders et al., Bezafibrate increases very-longchain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders, Hum Mol Genet, vol.14, pp.2695-2703, 2005.

B. S. Andresen, P. Bross, C. Vianey-saban, P. Divry, M. T. Zabot 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, vol.5, pp.461-472, 1996.

T. Aoyama, M. Souri, S. Ushikubo, T. Kamijo, S. Yamaguchi et al., Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients, J Clin Invest, vol.95, pp.2465-2473, 1995.

H. M. Engbers, L. Dorland, M. G. De-sain, P. F. Eskes, and G. Visser, Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting, J Inherit Metab Dis, vol.28, pp.1151-1152, 2005.

T. Fukao, H. Watanabe, K. Orii, Y. Takahashi, A. Hirano et al., Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl, Pediatr Res, vol.49, pp.227-231, 2001.

A. Mathur, H. F. Sims, D. Gopalakrishnan, B. Gibson, P. Rinaldo et al., Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death, Circulation, vol.99, pp.1337-1343, 1999.

R. Pons, P. Cavadini, S. Baratta, F. Invernizzi, E. Lamantea et al., Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency, Pediatr Neurol, vol.22, pp.98-105, 2000.

A. H. Smelt, B. J. Poorthuis, W. Onkenhout, H. R. Scholte, B. S. Andresen et al., Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset, Ann Neurol, vol.43, pp.540-544, 1998.

M. Souri, T. Aoyama, K. Orii, S. Yamaguchi, and T. Hashimoto, 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, vol.58, pp.97-106, 1996.

Y. Takusa, T. Fukao, M. Kimura, A. Uchiyama, W. Abo et al., Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency, Mol Genet Metab, vol.75, pp.227-234, 2002.

M. K. Tong, C. S. Lam, T. W. Mak, M. Y. Fu, S. H. Ng et al., Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure, Eur Respir J, vol.28, pp.447-450, 2006.

H. Watanabe, K. E. Orii, T. Fukao, X. Q. Song, T. Aoyama et al., Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping, Hum Mutat, vol.15, pp.430-438, 2000.

N. J. Manning, S. E. Olpin, R. J. Pollitt, and J. Webley, 10-3 H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts, J Inherit Metab Dis, vol.9, pp.58-68, 1990.

R. J. Wanders, P. Vreken, M. E. Den-boer, F. A. Wijburg, A. H. Van-gennip et al., Disorders of mitochondrial fatty acyl-CoA beta-oxidation, J Inherit Metab Dis, vol.22, pp.442-487, 1999.

J. J. Kim, M. Wang, and R. Paschke, Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate, Proc Natl Acad Sci, vol.90, pp.7523-7527, 1993.

A. Sali and T. L. Blundell, Comparative protein modelling by satisfaction of spatial restraints, J Mol Biol, vol.234, pp.779-815, 1993.

M. Souri, T. Aoyama, G. F. Cox, and T. Hashimoto, Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase, J Biol Chem, vol.273, pp.4227-4231, 1998.

E. S. Goetzman, Y. Wang, M. He, A. W. Mohsen, B. K. Ninness et al., Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system, Mol Genet Metab, vol.91, pp.138-147, 2007.

K. P. Battaile, J. Molin-case, R. Paschke, M. Wang, D. Bennett et al., Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases, J Biol Chem, vol.277, pp.12200-12207, 2002.

I. Nasser, A. W. Mohsen, I. Jelesarov, J. Vockley, P. Macheroux et al., Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability, Biochim Biophys Acta, vol.1690, pp.22-32, 2004.

C. B. Pedersen, P. Bross, V. S. Winter, T. J. Corydon, L. Bolund et al., Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency, J Biol Chem, vol.278, pp.47449-47458, 2003.

U. Spiekerkoetter, B. Sun, T. Zytkovicz, R. Wanders, A. W. Strauss et al., MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency, J Pediatr, vol.143, pp.335-342, 2003.

R. Ensenauer, M. He, J. M. Willard, E. S. Goetzman, T. J. Corydon et al., Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids, J Biol Chem, vol.280, pp.32309-32316, 2005.