These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Roe DS; Yang BZ; Vianey-Saban C; Struys E; Sweetman L; Roe CR Mol Genet Metab; 2006 Jan; 87(1):40-7. PubMed ID: 16297647 [TBL] [Abstract][Full Text] [Related]
7. Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders. Pourfarzam M; Schaefer J; Turnbull DM; Bartlett K Clin Chem; 1994 Dec; 40(12):2267-75. PubMed ID: 7988014 [TBL] [Abstract][Full Text] [Related]
8. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Bonnet D; Martin D; Pascale De Lonlay ; Villain E; Jouvet P; Rabier D; Brivet M; Saudubray JM Circulation; 1999 Nov; 100(22):2248-53. PubMed ID: 10577999 [TBL] [Abstract][Full Text] [Related]
9. [Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency]. Zhu JM; Yang Z Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Apr; 38(2):214-7. PubMed ID: 16617370 [TBL] [Abstract][Full Text] [Related]
11. Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. Kler RS; Jackson S; Bartlett K; Bindoff LA; Eaton S; Pourfarzam M; Frerman FE; Goodman SI; Watmough NJ; Turnbull DM J Biol Chem; 1991 Dec; 266(34):22932-8. PubMed ID: 1744086 [TBL] [Abstract][Full Text] [Related]
12. A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry. Law LK; Tang NL; Hui J; Ho CS; Ruiter J; Fok TF; Wanders RJ; Lam CW Clin Chim Acta; 2007 Jul; 382(1-2):25-30. PubMed ID: 17442290 [TBL] [Abstract][Full Text] [Related]
13. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. Potter BK; Little J; Chakraborty P; Kronick JB; Evans J; Frei J; Sutherland SC; Wilson K; Wilson BJ J Inherit Metab Dis; 2012 Jan; 35(1):115-23. PubMed ID: 21630065 [TBL] [Abstract][Full Text] [Related]
14. Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders. Ribas GS; Vargas CR Cell Mol Neurobiol; 2022 Apr; 42(3):521-532. PubMed ID: 32876899 [TBL] [Abstract][Full Text] [Related]
15. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Stanley CA Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304 [TBL] [Abstract][Full Text] [Related]
16. Diagnosis of mitochondrial fatty acid oxidation defects. Duran M; Bruinvis L; Ketting D; Dorland L Padiatr Padol; 1993; 28(1):19-25. PubMed ID: 8446424 [TBL] [Abstract][Full Text] [Related]
17. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Tyni T; Paetau A; Strauss AW; Middleton B; Kivelä T Pediatr Res; 2004 Nov; 56(5):744-50. PubMed ID: 15347768 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient. Violante S; Ijlst L; Te Brinke H; Koster J; Tavares de Almeida I; Wanders RJ; Ventura FV; Houten SM Biochim Biophys Acta; 2013 Sep; 1831(9):1467-74. PubMed ID: 23850792 [TBL] [Abstract][Full Text] [Related]