Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.

Yasushi Uchida, Kaoru Izai, T Orii et al. · Journal of Biological Chemistry · 1992 · 345 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers et al. · Journal of Clinical Investigation · 1996 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

Lodewijk IJlst, R. J. A. Wanders, S. Ushikubo et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1994 · 159 citations

Life Sciences, Biochemistry, Molecular Biology +17

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

Ronald J. A. Wanders, Lodewijk IJlst, F Poggi et al. · Biochemical and Biophysical Research Communications · 1992 · 154 citations

Life Sciences, Biochemistry, Molecular Biology +16

Retinal Dystrophies and Degenerations

David A. Newsome · Cornea · 1989 · 151 citations

Medicine, Neurology, Ophthalmology +12