Februari 2012
26
8.
Laforet 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) deficiency.
Neuromuscul Disord.
2009;19:324-329.
9.
Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, et al. VLCAD
deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Mol Genet Metab.
2006;88:166-170.
10.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects:
results from a workshop.
J Inherit Metab Dis.
2009;32:488-497.
11.
Arnold GL, Van HJ, 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 deficiency.
Mol Genet Metab.
2009;96:85-90.
12.
Acute Ilness Protocol - Fatty Acid Oxidation Disorders - VLCADD. In: The New England
Consortium of Metabolic Programs, editor. 2011.
13.
Vellekoop P, Diekman EF, van T, I, de Vries MM, van Hasselt PM, Visser G. Perioperative
measures in very long chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab.
2011;103:96-97.
14.
Roe CR, Sweetman L, Roe DS, David F, Brunengraber H. Treatment of cardiomyopathy and
rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain
triglyceride.
J Clin Invest.
2002;110:259-269.
15.
Djouadi F, Aubey F, Schlemmer D, Ruiter JP, Wanders RJ, Strauss AW, et al. Bezafibrate
increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient
fibroblasts and is a potential therapy for fatty acid oxidation disorders.
Hum Mol Genet.
2005;14:2695-2703.
16.
Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, et al. Genetic basis
for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate
in patient fibroblasts: toward a genotype-based therapy.
Am J Hum Genet.
2007;81:1133-
1143.