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• Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

  Martins E, Costa A, Silva E, Medina M, Cardoso ML, Vianey-Saban C, Divry P, Vilarinho L. Martins E, et al. J Inherit Metab Dis. 1996;19(3):373-4. doi: 10.1007/BF01799273. J Inherit Metab Dis. 1996. PMID: 8803786 No abstract available.
• Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.

  von Döbeln U, Venizelos N, Westgren M, Hagenfeldt L. von Döbeln U, et al. J Inherit Metab Dis. 1994;17(2):185-8. doi: 10.1007/BF00711615. J Inherit Metab Dis. 1994. PMID: 7967472
• Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

  Bergoffen J, Kaplan P, Hale DE, Bennett MJ, Berry GT. Bergoffen J, et al. J Inherit Metab Dis. 1993;16(5):851-6. doi: 10.1007/BF00714277. J Inherit Metab Dis. 1993. PMID: 8295400
• Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.

  Schrijver-Wieling I, van Rens GH, Wittebol-Post D, Smeitink JA, de Jager JP, de Klerk HB, van Lith GH. Schrijver-Wieling I, et al. Br J Ophthalmol. 1997 Apr;81(4):291-4. doi: 10.1136/bjo.81.4.291. Br J Ophthalmol. 1997. PMID: 9215057 Free PMC article.
• 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.

  IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ. IJlst L, et al. J Clin Invest. 1996 Aug 15;98(4):1028-33. doi: 10.1172/JCI118863. J Clin Invest. 1996. PMID: 8770876 Free PMC article.