Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 109

1.

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
2.

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
3.

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.

4.

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.

5.

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.

6.

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
7.

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
8.

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.

9.

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
10.

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
11.
12.

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
13.

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW.

Hum Mutat. 2003 Jun;21(6):598-607.

PMID:
12754706
14.

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
15.

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.

Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW.

Int J Mol Med. 2007 Jan;19(1):81-7.

PMID:
17143551
16.

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
17.

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.

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.

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.

Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K.

J Obstet Gynaecol Res. 2015 May;41(5):799-802. doi: 10.1111/jog.12609. Epub 2014 Nov 25.

PMID:
25420603
20.

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T.

Hum Mol Genet. 1997 Aug;6(8):1215-24.

PMID:
9259266

Supplemental Content

Support Center