Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

Ann‐Christine Syvänen, Katriina Aalto‐Setälä, Leena Harju et al. · Genomics · 1990 · 390 citations

Life Sciences, Genetics, Molecular Genetics +9

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

Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

A. Kimberly Iafolla, Robert J. Thompson, Charles R. Roe · The Journal of Pediatrics · 1994 · 277 citations

Life Sciences, Biochemistry, Pediatrics +13

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Harold F. Sims, J C Brackett, C K Powell et al. · Proceedings of the National Academy of Sciences · 1995 · 225 citations

Life Sciences, Biochemistry, Genetics +17

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

Bridget Wilcken, Kit‐wah Leung, Jeremy Hammond et al. · The Lancet · 1993 · 220 citations

Life Sciences, Biochemistry, Obstetrics +10