266 related articles for article (PubMed ID: 26109258)
21. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
Djouadi F; Aubey F; Schlemmer D; Ruiter JP; Wanders RJ; Strauss AW; Bastin J
Hum Mol Genet; 2005 Sep; 14(18):2695-703. PubMed ID: 16115821
[TBL] [Abstract][Full Text] [Related]
22. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
Gobin-Limballe S; Djouadi F; Aubey F; Olpin S; Andresen BS; Yamaguchi S; Mandel H; Fukao T; Ruiter JP; Wanders RJ; McAndrew R; Kim JJ; Bastin J
Am J Hum Genet; 2007 Dec; 81(6):1133-43. PubMed ID: 17999356
[TBL] [Abstract][Full Text] [Related]
23. Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA; Jain N; Jia Y; Schlechter CL; Harding CO; Gao SS; Patel RC; Huang D; Weleber RG; Gillingham MB; Pennesi ME
Ophthalmology; 2016 Oct; 123(10):2183-95. PubMed ID: 27491397
[TBL] [Abstract][Full Text] [Related]
24. Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
Immonen T; Ahola E; Toppila J; Lapatto R; Tyni T; Lauronen L
Eur J Paediatr Neurol; 2016 Jan; 20(1):38-44. PubMed ID: 26653362
[TBL] [Abstract][Full Text] [Related]
25. 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. PubMed ID: 19699128
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 24664533
[TBL] [Abstract][Full Text] [Related]
27. Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.
Lund M; Andersen KG; Heaton R; Hargreaves IP; Gregersen N; Olsen RKJ
Biochim Biophys Acta Mol Basis Dis; 2021 Jun; 1867(6):166100. PubMed ID: 33549744
[TBL] [Abstract][Full Text] [Related]
28. Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Uzun ÖÜ; Çavdarlı B; Karalök S
Turk J Pediatr; 2021; 63(6):1097-1102. PubMed ID: 35023662
[TBL] [Abstract][Full Text] [Related]
29. Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
Terrone G; Ruoppolo M; Brunetti-Pierri N; Cozzolino C; Scolamiero E; Parenti G; Romano A; Andria G; Salvatore F; Frisso G
Neurology; 2014 Jan; 82(1):e1-4. PubMed ID: 24379101
[No Abstract] [Full Text] [Related]
30. Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Djouadi F; Bonnefont JP; Thuillier L; Droin V; Khadom N; Munnich A; Bastin J
Pediatr Res; 2003 Oct; 54(4):446-51. PubMed ID: 12840153
[TBL] [Abstract][Full Text] [Related]
31. An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Erdol S; Ture M; Baytan B; Yakut T; Saglam H
J Pediatr Hematol Oncol; 2016 Nov; 38(8):661-662. PubMed ID: 27769081
[TBL] [Abstract][Full Text] [Related]
32. [Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].
Han Y; Yang Z; Ding X; Yu H; Yi Y
Zhonghua Fu Chan Ke Za Zhi; 2015 Oct; 50(10):740-6. PubMed ID: 26675572
[TBL] [Abstract][Full Text] [Related]
33. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser H; Geppert J; Johnson R; Johnson S; Connock M; Clarke A; Taylor-Phillips S; Stinton C
Orphanet J Rare Dis; 2019 Nov; 14(1):258. PubMed ID: 31730477
[TBL] [Abstract][Full Text] [Related]
34. Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Liu ZR; Dong HL; Ma Y; Wu ZY
Mitochondrion; 2019 Nov; 49():200-205. PubMed ID: 31521624
[TBL] [Abstract][Full Text] [Related]
35. 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. PubMed ID: 15902556
[TBL] [Abstract][Full Text] [Related]
36. Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Lefort B; Gouache E; Acquaviva C; Tardieu M; Benoist JF; Dumas JF; Servais S; Chevalier S; Vianey-Saban C; Labarthe F
Biochim Biophys Acta Mol Basis Dis; 2017 Jun; 1863(6):1292-1299. PubMed ID: 28392417
[TBL] [Abstract][Full Text] [Related]
37. Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle.
Cecatto C; Godoy KDS; da Silva JC; Amaral AU; Wajner M
Toxicol In Vitro; 2016 Oct; 36():1-9. PubMed ID: 27371118
[TBL] [Abstract][Full Text] [Related]
38. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Gillingham MB; Heitner SB; Martin J; Rose S; Goldstein A; El-Gharbawy AH; Deward S; Lasarev MR; Pollaro J; DeLany JP; Burchill LJ; Goodpaster B; Shoemaker J; Matern D; Harding CO; Vockley J
J Inherit Metab Dis; 2017 Nov; 40(6):831-843. PubMed ID: 28871440
[TBL] [Abstract][Full Text] [Related]
39. Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Li H; Fukuda S; Hasegawa Y; Kobayashi H; Purevsuren J; Mushimoto Y; Yamaguchi S
Brain Dev; 2010 May; 32(5):362-70. PubMed ID: 19589653
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 22459206
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
