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Items: 1 to 20 of 143

1.

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
2.

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.

PMID:
28132977
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.

A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Hisahara S, Matsushita T, Furuyama H, Tajima G, Shigematsu Y, Imai T, Shimohama S.

Tohoku J Exp Med. 2015;235(4):305-10. doi: 10.1620/tjem.235.305.

5.

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.

6.

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
7.

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
8.

Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.

Tuuli I, Emilia A, Jussi T, Risto L, Tiina T, Leena L.

Eur J Paediatr Neurol. 2016 Jan;20(1):38-44. doi: 10.1016/j.ejpn.2015.10.009. Epub 2015 Nov 14.

PMID:
26653362
9.

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB.

Mol Genet Metab. 2012 May;106(1):18-24. doi: 10.1016/j.ymgme.2012.02.015. Epub 2012 Mar 8. Review.

10.

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.

11.

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.

12.

Muscle MRI in patients with long-chain fatty acid oxidation disorders.

Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G.

J Inherit Metab Dis. 2014 May;37(3):405-13. doi: 10.1007/s10545-013-9666-3. Epub 2013 Dec 5.

PMID:
24305961
13.

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T.

J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012.

PMID:
24263034
14.

Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

Voermans NC, van Engelen BG, Kluijtmans LA, Stikkelbroeck NM, Hermus AR.

Am J Med. 2006 Feb;119(2):176-9. No abstract available.

PMID:
16443431
15.

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
16.

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
17.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
18.

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.

Schaefer J, Jackson S, Dick DJ, Turnbull DM.

Ann Neurol. 1996 Oct;40(4):597-602.

PMID:
8871579
19.

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Jinjun C, Wenjuan Q, Ruinan Z, Jun Y, Lianshu H, Huiwen Z, Qigang Z, Xuefan G.

Zhonghua Er Ke Za Zhi. 2015 Apr;53(4):262-7. Chinese.

PMID:
26182500
20.

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Merinero B, Pascual Pascual SI, Pérez-Cerdá C, Gangoiti J, Castro M, Garcia MJ, Pascual Castroviejo I, Vianey-Saban C, Andresen B, Gregersen N, Ugarte M.

J Inherit Metab Dis. 1999 Oct;22(7):802-10.

PMID:
10518280

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