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Items: 1 to 20 of 100

1.

Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.

Liu ZR, Dong HL, Ma Y, Wu ZY.

Mitochondrion. 2019 Sep 12. pii: S1567-7249(19)30028-5. doi: 10.1016/j.mito.2019.09.004. [Epub ahead of print]

PMID:
31521624
2.

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.

Fu X, Zheng F, Zhang Y, Bao X, Wang S, Yang Y, Xiong H.

Mol Genet Metab Rep. 2015 Nov 6;5:80-84. doi: 10.1016/j.ymgmr.2015.10.015. eCollection 2015 Dec.

3.

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.

Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M.

Mol Genet Metab. 2011 Dec;104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28.

PMID:
22000755
4.

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.

Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24.

PMID:
24664533
5.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A.

Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22.

PMID:
30682426
6.

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.

Yamamoto Y, Matsui N, Hiramatsu Y, Miyazaki Y, Nodera H, Izumi Y, Takashima H, Kaji R.

Rinsho Shinkeigaku. 2017 Feb 25;57(2):82-87. doi: 10.5692/clinicalneurol.cn-000976. Epub 2017 Jan 28. Japanese.

PMID:
28132977
7.

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.

BMC Med Genet. 2013 Dec 5;14:125. doi: 10.1186/1471-2350-14-125.

8.

Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.

Liewluck T, Mundi MS, Mauermann ML.

Muscle Nerve. 2013 Dec;48(6):989-91. doi: 10.1002/mus.23959. Epub 2013 Oct 25.

PMID:
23868323
9.

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.

Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S.

Mol Genet Metab. 2009 Dec;98(4):372-7. doi: 10.1016/j.ymgme.2009.07.011. Epub 2009 Jul 23.

PMID:
19699128
10.

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.

Das AM, Illsinger S, Lücke T, Hartmann H, Ruiter JP, Steuerwald U, Waterham HR, Duran M, Wanders RJ.

Clin Chem. 2006 Mar;52(3):530-4. Epub 2006 Jan 19.

11.

Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.

Shahrokhi M, Shafiei M, Galehdari H, Shariati G.

Arch Iran Med. 2017 Jan;20(1):22-27. doi: 0172001/AIM.006.

12.

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

van Vliet P, Berden AE, van Schie MKM, Bakker JA, Heringhaus C, de Coo IFM, Langeveld M, Schroijen MA, Arbous MS.

JIMD Rep. 2018;38:101-105. doi: 10.1007/8904_2017_37. Epub 2017 Jul 7.

13.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J.

J Inherit Metab Dis. 2016 Jan;39(1):47-58. doi: 10.1007/s10545-015-9871-3. Epub 2015 Jun 25.

PMID:
26109258
14.

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS.

Ann Clin Lab Sci. 2009 Fall;39(4):399-404.

PMID:
19880769
15.

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.

Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T.

Eur J Pediatr. 2015 Dec;174(12):1689-92. doi: 10.1007/s00431-015-2574-9. Epub 2015 Jun 13.

PMID:
26070998
16.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
17.

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.

Lu Y, Wu R, Meng L, Lv H, Liu J, Zuo Y, Zhang W, Yuan Y, Wang Z.

Clin Neuropathol. 2018 Sep/Oct;37(5):232-238. doi: 10.5414/NP301097.

PMID:
29956646
18.

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

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.

J Inherit Metab Dis. 2005;28(4):533-44.

PMID:
15902556
19.

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G.

JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31.

20.

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I.

Muscle Nerve. 2004 Jan;29(1):66-72.

PMID:
14694500

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