Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

Charles A. Stanley, Daniel E. Hale, Gerard T. Berry et al. · New England Journal of Medicine · 1992 · 183 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst et al. · The American Journal of Human Genetics · 1997 · 143 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +7

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

Fatima Djouadi, Flore Aubey, Dimitri Schlemmer et al. · Human Molecular Genetics · 2005 · 94 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Vito Iacobazzi, Federica Invernizzi, Silvia Baratta et al. · Human Mutation · 2004 · 77 citations

Life Sciences, Genetics, Molecular Genetics +17

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

Jürgen G. Okun, Stefan Kölker, Andreas Schulze et al. · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2002 · 74 citations

Life Sciences, Biochemistry, Dermatology +7