| 1 | HADHA, HADHB, MTPD
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| A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
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| Bo R, Hasegawa Y, Yamada K, Kobayashi H, Taketani T, Fukuda S, Yamaguchi S.
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| Mol Genet Metab Rep 6:1-4. doi: 10.1016/j.ymgmr.2015.11.005. eCollection 2016 Mar.
2015
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| 2 | HADHA, HADHB, MTPD
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| Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
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| Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.
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| Am J Med Genet A 164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. 2014
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| 3 | HADHA, HADHB
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| Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.
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| Fould B, Garlatti V, Neumann E, Fenel D, Gaboriaud C, Arlaud GJ.
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| Biochemistry 49(39):8608-17. Epub 2010 Sep 8.
2010
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| 4 | HADHA
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| Identification of the human mitochondrial linoleoyl-coenzyme A monolysocardiolipin acyltransferase (MLCL AT-1).
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| Taylor WA, Hatch GM.
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| J Biol Chem 284(44):30360-71. Epub 2009 Sep 8.PMID: 19737925 2009
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| 5 | 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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| 6 | 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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| 7 | HADHA, ACADVL
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| Long-Chain Fatty Acid Oxidation during Early Human Development.
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| Oey NA, DEN Boer ME, Wijburg FA, Vekemans M, Auge J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attie-Bitach T.
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| Pediatr Res 57(6):755-9. Epub 2005 Apr 21. 2005
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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | HADHA, HADHB
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| Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.
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| Orii KE, et al.
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| J Biol Chem 274(12):8077-84. 1999
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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | HADHA, HADHB
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| Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution.
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| Aoyama T, Wakui K, Orii KE, Hashimoto T, Fukushima Y.
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| Cytogenet Cell Genet 79 : 221-224. 1997
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| 16 | HADHA, HADHB, MTPD
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| Molecular characterization of mitochondrial trifunctional protein deficiency : formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
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| Ushikubo S, et al.
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| Am J Hum Genet 58 : 979-988. 1996
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| 17 | 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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| 18 | HADHA, HADHB
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| The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23.
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| Yang BZ, et al.
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| Genomics 37 : 141-143. 1996
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| 19 | 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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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | HADHA, HADHAP
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| Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.
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| Zhang QX, Baldwin GS.
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| Biochim Biophys Acta 1219(2):567-75. 1994
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| 24 | HADHA
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| Molecular cloning of the cDNAs for the subunits of Rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.
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| Kamijo T, et al.
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| J Biol Chem 268 : 26452-26460. 1993
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| 25 | HADHA, LCHAD
|
| Combined enzyme defect of mitochondrial fatty acid oxidation.
|
| Jackson S, et al.
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| J Clin Invest 90 : 1219-1225. 1992
|