| 1 | HADHA, HADHB, LCHAD, MTPD
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| Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
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| Spiekerkoetter U, Mueller M, Cloppenburg E, Motz R, Mayatepek E, Bueltmann B, Korenke C.
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| Mol Genet Metab 94(4):428-30. Epub 2008 May 15. 2008
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| 2 | HADHA, HADHB, LCHAD
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| Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
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| Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW.
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| Int J Mol Med 19(1):81-7. 2007
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| 3 | HADHA, LCHAD, MTPD
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| Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
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| Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M.
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| J Inherit Metab Dis 28(4):533-44. 2005
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| 4 | HADHA, LCHAD, MTPD
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| Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
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| Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I.
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| Muscle Nerve 29(1):66-72. 2004
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| 5 | LCHAD
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| Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome.
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| Otto LR, et al.
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| Am J Med Genet 83(1):3-5. 1999
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| 6 | HADHA, HADHB, LCHAD
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| A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
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| Ibdah JA, et al.
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| N Engl J Med 340(22):1723-31. 1999
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| 7 | LCHAD
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| Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
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| Tyni T, et al.
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| Curr Eye Res 17 : 551-559. 1998
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| 8 | HADHA, LCHAD, MTPD
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| Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
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| Ibdah JA, et al.
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| J Clin Invest 102 : 1193-1199. 1998
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| 9 | HADHA, LCHAD
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| Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation : clinical presentation of thirteen patients.
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| Tyni T, et al.
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| J Pediatr 130 : 67-76. 1997
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| 10 | HADHB, LCHAD
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| Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
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| Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T.
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| Hum Mol Genet 6(8):1215-24. 1997
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| 11 | LCHAD, HADHA, HADHB
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| Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
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| IJlst L, Oostheim W, Ruiter JP, Wanders RJ.
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| J Inherit Metab Dis 20(3):420-2. 1997
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| 12 | HADHA, LCHAD
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| 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.
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| Ijist L, et al.
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| J Clin Invest 98 : 1028-1033. 1996
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| 13 | HADHA, LCHAD
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| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
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| Ijist L, et al.
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| J Inherit Metab Dis 18 : 241-244. 1995
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| 14 | HADHA, HADHB, LCHAD, MTPD
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| Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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| Hagenfeldt L, et al.
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| J Inherit Metab Dis 18 : 245-248. 1995
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| 15 | HADHA, HADHB, LCHAD, MTPD
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| Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
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| Brackett JC, et al.
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| J Clin Invest 95 : 2076-2082. 1995
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| 16 | HADHA, LCHAD
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| Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
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| Ijlst L, et al.
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| Biochim Biophys Acta 1215 : 347-350. 1994
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| 17 | HADHA, LCHAD
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| Combined enzyme defect of mitochondrial fatty acid oxidation.
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| Jackson S, et al.
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| J Clin Invest 90 : 1219-1225. 1992
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