Genetic Conditions > long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Angdisen J, Moore VD, Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug Targets Immune Endocr Metabol Disord. 2005 Mar;5(1):27-40. Review. PubMed citation
den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics. 2002 Jan;109(1):99-104. PubMed citation
Fahnehjelm KT, Holmström G, Ying L, Haglind CB, Nordenström A, Halldin M, Alm J, Nemeth A, von Döbeln U. Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. Acta Ophthalmol. 2008 May;86(3):329-37. Epub 2007 Dec 19. Erratum in: Acta Ophthalmol. 2008 Jun;86(4):466. PubMed citation
Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2007 Jan;90(1):64-9. Epub 2006 Sep 22. PubMed citation
Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attié-Bitach T. Long-chain fatty acid oxidation during early human development. Pediatr Res. 2005 Jun;57(6):755-9. Epub 2005 Apr 21. PubMed citation
Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol. 2002;64:477-502. Review. PubMed citation
Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5. PubMed citation
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. PubMed citation
Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 2004 Nov;56(5):744-50. Epub 2004 Sep 3. PubMed citation
Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr. 1999 Mar;88(3):237-45. Review. PubMed citation


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