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Results: 1-7 |
Results: 7
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency
Authors: Bennett, MJ Harthcock, PA Boriack, RL Cohen, JC
Citation: Mj. Bennett et al., Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency, MOL GEN MET, 73(3), 2001, pp. 276-279
Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain L-3-hydroxyacyl-CoA dehydrogenase: A useful diagnostic aid
Authors: Jones, PM Moffitt, M Joseph, D Harthcock, PA Boriack, RL Ibdah, JA Strauss, AW Bennett, MJ
Citation: Pm. Jones et al., Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain L-3-hydroxyacyl-CoA dehydrogenase: A useful diagnostic aid, CLIN CHEM, 47(7), 2001, pp. 1190-1194
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study
Authors: Treacy, EP Lambert, DM Barnes, R Boriack, RL Vockley, J O'Brien, LK Jones, PM Bennett, MJ
Citation: Ep. Treacy et al., Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study, J PEDIAT, 137(2), 2000, pp. 257-259
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation
Authors: Jones, PM Quinn, R Fennessey, PV Tjoa, S Goodman, SI Fiore, S Burlina, AB Rinaldo, P Boriack, RL Bennett, MJ
Citation: Pm. Jones et al., Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation, CLIN CHEM, 46(2), 2000, pp. 149-155
Tissue expression and subcellular localization of CLN3, the Batten diseaseprotein
Authors: Margraf, LR Boriack, RL Routheut, AAJ Cuppen, I Alhilali, L Bennett, CJ Bennett, MJ
Citation: Lr. Margraf et al., Tissue expression and subcellular localization of CLN3, the Batten diseaseprotein, MOL GEN MET, 66(4), 1999, pp. 283-289
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: Clinical, biochemical, and pathological studies on three subjects withthis recently identified disorder of mitochondrial beta-oxidation
Authors: Bennett, MJ Spotswood, SD Ross, KF Comfort, S Koonce, R Boriack, RL IJlst, L Wanders, RJA
Citation: Mj. Bennett et al., Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: Clinical, biochemical, and pathological studies on three subjects withthis recently identified disorder of mitochondrial beta-oxidation, PEDIATR D P, 2(4), 1999, pp. 337-345
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)
Authors: Otto, LR Boriack, RL Marsh, DJ Kum, JB Eng, C Burlina, AB Bennett, MJ
Citation: Lr. Otto et al., Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS), AM J MED G, 83(1), 1999, pp. 3-5
Risultati: 1-7 |