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Journal Abstract Search

367 related items for PubMed ID: 1401059

  • 1. Combined enzyme defect of mitochondrial fatty acid oxidation.
    Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnbull DM.
    J Clin Invest; 1992 Oct; 90(4):1219-25. PubMed ID: 1401059
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  • 2. Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.
    Jackson S, Kler RS, Bartlett K, Pourfarzam M, Aynsley-Green A, Bindoff LA, Turnbull DM.
    Prog Clin Biol Res; 1992 Oct; 375():327-37. PubMed ID: 1438378
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  • 3. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
    Kamijo T, Wanders RJ, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T.
    J Clin Invest; 1994 Apr; 93(4):1740-7. PubMed ID: 8163672
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  • 4. Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.
    van Grunsven EG, van Roermund CW, Denis S, Wanders RJ.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):176-9. PubMed ID: 9196058
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  • 5. beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.
    Venizelos N, Ijlst L, Wanders RJ, Hagenfeldt L.
    Pediatr Res; 1994 Jul 09; 36(1 Pt 1):111-4. PubMed ID: 7936829
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  • 7. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
    Wanders RJ, IJlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray JM.
    Biochem Biophys Res Commun; 1992 Nov 16; 188(3):1139-45. PubMed ID: 1445348
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  • 9. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
    Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW.
    N Engl J Med; 1999 Jun 03; 340(22):1723-31. PubMed ID: 10352164
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  • 10. Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
    Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, Kelley RI.
    Pediatr Neurol; 1995 Jan 03; 12(1):21-30. PubMed ID: 7748356
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  • 12. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
    Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF.
    Pediatr Res; 1990 Dec 03; 28(6):657-62. PubMed ID: 2284166
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  • 14. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM.
    Pediatr Res; 1991 Apr 03; 29(4 Pt 1):406-11. PubMed ID: 1830138
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  • 20. Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.
    Tager JM, Van der Beek WA, Wanders RJ, Hashimoto T, Heymans HS, Van den Bosch H, Schutgens RB, Schram AW.
    Biochem Biophys Res Commun; 1985 Feb 15; 126(3):1269-75. PubMed ID: 3977916
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