참고문헌 (43)

1. Houten SM, Wanders RJ. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis 2010;33:469-77. 

2. Ruiz-Sala P, Pena-Quintana L. Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases. J Clin Med 2021;10:4855. 

   상세보기

3. Yoo HW. Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective. J Lipid Atheroscler 2021;10:1-7. 

4. Sklirou E, Alodaib AN, Dobrowolski SF, Mohsen AWA, Vockley J. Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders. Front Genet 2021;11:598760. 

5. Adeva-Andany MM, Carneiro-Freire N, Seco-Filgueira M, Fernandez-Fernandez C, Mourino-Bayolo D. Mitochondrial β-oxidation of saturated fatty acids in humans. Mitochondrion 2019;46:73-90. 

6. Sun A, Merritt JL II. Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress. Orphan Drugs: Res Rev 2015;5: 33-41. 

7. Shirley M. Triheptanoin: first approval. Drugs 2020; 80:1595-600. 

8. Vockley J. Long-chain fatty acid oxidation disorders and current management strategies. Am J Manag Care 2020;26(7 Suppl):147-54. 

9. Knottnerus SJG, Bleeker JC, Wust RCI, Ferdinandusse S, IJlst L, Wijburg FA, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 2018;19:93-106. 

10. Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both αand β-subunits. Am J Hum Genet 1996;58:979-88. 

11. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis 2009;32:488-97. 

    상세보기

12. Williams-Hall R, Tinsley K, Kruger E, Johnson C, Bowden A, Cimms T, et al. Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders. Ther Adv Endocrinol Metab 2022;13:20420188211065655. 

    상세보기

13. Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, et al. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. Mol Genet Metab Rep 2018;16:5-10. 

    상세보기

14. Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, et al. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta 2005;354:167-80. 

    상세보기

15. Merritt JL II, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med 2018;6:473. 

    상세보기

16. Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEMIS database. Mol Genet Metab 2016;118:272-81. 

    상세보기

17. Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 2003;21:598-607. 

18. Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab 2011;103:341-8. 

    상세보기

19. Kang E, Kim YM, Kang M, Heo SH, Kim GH, Choi IH, et al. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. BMC Pediatr 2018;18:103. 

    상세보기

20. Goetzman E.S. Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders. Curr Genet Med Rep 2017;5:132-42. 

    상세보기

21. Aitken-Buck HM, Krause J, Zeller T, Jones PP, Lamberts RR. Long-Chain Acylcarnitines and Cardiac Excitation-Contraction Coupling: Links to Arrhythmias. Front Physiol 2020;11:1174. 

22. Longo N, Amat di San Filippo C, Pasquali M. Disorders of Carnitine Transport and the Carnitine Cycle. Am J Med Genet C Semin Med Genet 2006;142:77-85. 

23. Bennett M.J. Pathophysiology of Fatty Acid Oxidation Disorders. J. Inherit. Metab Dis 2010;33:533-37. 

    상세보기

24. Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Moslinger D, et al. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with long-chain 3-hydroxy acyl coa dehydrogenase deficiency (LCHADD). Orphanet J Rare Dis 2015;10:21. 

    상세보기

25. Lotz-Havla AS, Roschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, et al. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency. Orphanet J Rare Dis 2018;13:122 

    상세보기

26. 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;57(5 Pt 2):78R-86R. 

27. Spikerkoetter U. Mitochondrial fatty acid oxidation disorders: clnical presentation of long chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010:33:527-32. 

28. https://www.acmg.net/ACMG/Medical-Genetics-PracticeResources/ACT_Sheets_and_Algorithms.aspx. 

29. Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 2010;33:521-6. 

    상세보기

30. Wanders RJA, Visser G, Ferdinandusse S, Vaz FM, Houtkooper RH. Mitochondrial fatty acid oxidation disorders: laboratory diagnosis, pathogenesis, and the complicated route to treatment. J Lipid Atheroscler 2020;9:313-33. 

31. Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute illness protocol for fatty acid oxidation and carnitine disorders. Pediatr Emerg Care 2017;33:296-301 

    상세보기

32. DaTorre SD, Creer MH, Pogwizd SM, Corr PB. Amphipathic lipid metabolites and their relation to arrhythmogenesis in the ischemic heart. J Mol Cell Cardiol 1991;23 Suppl 1:11-22. 

33. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 2009;32:498-505. 

    상세보기

34. Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J Hum Genet 2019;64:73-85. 

    상세보기

35. Zand D, Doan J, Yi S, Wang J, Ma L, Akinshola E, et al. Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary. J Inherit Metab Dis 2021;44:515-7. 

36. Roe CR, Roe DS, Wallace M, Garritson B. Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol Genet Metab 2007;92:346-50. 

    상세보기

37. Merritt JL 2nd, MacLeod E, Jurecka A, Hainline B. Clinical manifestations and management of fatty acid oxidation disorders. Rev Endocr Metab Disord 2020; 21:479-93. 

38. Shah ND, Limketkai BN. The use of medium-chain triglycerides in gastrointestinal disorders. Practical Gastro. Published February 2017. Accessed May 20, 2020. med.virginia.edu/ginutrition/wp-content/uploads/sites/199/2014/06/Parrish-February-17.pdf. 

39. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, et al. UX007 for the treatment of long chain-fatty acid oxidation disorders: safety and efficacy in children and adults following 24 weeks of treatment. Mol Genet Metab 2017;120:370-77. 

    상세보기

40. Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM. Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. J Cereb Blood Flow Metab 2013;33:175-82. 

    상세보기

41. Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis 2017;40:831-43. 

    상세보기

42. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, et al. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis 2019;42:169-77. 

    상세보기

43. Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, et al. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis 2021;44:253-63. 

    상세보기