| 1 | HADHB, MTPD
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| Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
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| van Vliet P, Berden AE, van Schie MKM, Bakker JA, Heringhaus C, de Coo IFM, Langeveld M, Schroijen MA, Arbous MS.
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| JIMD Rep IMD Rep. 2017 Jul 7. doi: 10.1007/8904_2017_37. [Epub ahead of print]
2017
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| 2 | 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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| 3 | 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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| 4 | HADHB, MTPD
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| A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
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| Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.
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| BMC Med Genet 14:125. doi: 10.1186/1471-2350-14-125.
2013
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| 5 | HADHB, MTPD
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| A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
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| Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M.
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| Mol Genet Metab 104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28.
2011
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| 6 | HADHB, MTPD
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| Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
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| Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S.
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| Mol Genet Metab 98(4):372-7. Epub 2009 Jul 23.
2009
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| 7 | 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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| 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, 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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| 11 | 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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| 12 | 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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| 13 | 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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