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Liu, D. HADHB Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3836 (accessed on 28 September 2026).
Liu D. HADHB Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3836. Accessed September 28, 2026.
Liu, Dean. "HADHB Gene" Encyclopedia, https://encyclopedia.pub/entry/3836 (accessed September 28, 2026).
Liu, D. (2020, December 22). HADHB Gene. In Encyclopedia. https://encyclopedia.pub/entry/3836
Liu, Dean. "HADHB Gene." Encyclopedia. Web. 22 December, 2020.
HADHB Gene
Edit

Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

genes

References

  1. Angdisen J, Moore VD, Cline JM, Payne RM, Ibdah JA. Mitochondrialtrifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug Targets Immune Endocr Metabol Disord. 2005 Mar;5(1):27-40. Review.
  2. Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW. Identification of novelmutations of the HADHA and HADHB genes in patients with mitochondrialtrifunctional protein deficiency. Int J Mol Med. 2007 Jan;19(1):81-7.
  3. Das AM, Illsinger S, Lücke T, Hartmann H, Ruiter JP, Steuerwald U, WaterhamHR, Duran M, Wanders RJ. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem. 2006Mar;52(3):530-4.
  4. Eaton S, Bursby T, Middleton B, Pourfarzam M, Mills K, Johnson AW, Bartlett K.The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon?Biochem Soc Trans. 2000 Feb;28(2):177-82. Review.
  5. 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 duringearly human development. Pediatr Res. 2005 Jun;57(6):755-9.
  6. Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T,Kondo N, Hashimoto T. Genomic and mutational analysis of the mitochondrialtrifunctional protein beta-subunit (HADHB) gene in patients with trifunctionalprotein deficiency. Hum Mol Genet. 1997 Aug;6(8):1215-24.
  7. Sander J, Sander S, Steuerwald U, Janzen N, Peter M, Wanders RJ, Marquardt I, Korenke GC, Das AM. Neonatal screening for defects of the mitochondrialtrifunctional protein. Mol Genet Metab. 2005 Jun;85(2):108-14.
  8. Shekhawat PS, Matern D, Strauss AW. Fetal fatty acid oxidation disorders,their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res. 2005 May;57(5 Pt2):78R-86R.
  9. Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. Generalmitochondrial trifunctional protein (TFP) deficiency as a result of either alpha-or beta-subunit mutations exhibits similar phenotypes because mutations in eithersubunit alter TFP complex expression and subunit turnover. Pediatr Res. 2004Feb;55(2):190-6.
  10. 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.
  11. Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Molecular andphenotypic heterogeneity in mitochondrial trifunctional protein deficiency due tobeta-subunit mutations. Hum Mutat. 2003 Jun;21(6):598-607.
  12. Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW. The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multipletissue involvement. J Inherit Metab Dis. 2004;27(2):294-6.
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