In vitro diagnosis of LCHAD deficiency
Diagnóstico in vitro de la deficiencia LCHAD; /In vitro diagnosis of LCHAD deficiency
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Artículos de Investigación
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Osorio, J. H. (2013). In vitro diagnosis of LCHAD deficiency. Archivos De Medicina , 13(1), 24-30. https://doi.org/10.30554/archmed.13.1.22.2013
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How to Cite
Osorio, J. H. (2013). In vitro diagnosis of LCHAD deficiency. Archivos De Medicina , 13(1), 24-30. https://doi.org/10.30554/archmed.13.1.22.2013
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Materials and methods: fibroblasts from patients and controls were incubated with deuterated palmític acid and the metabolites of the oxidation of this substrate were measured in nmol/mg proteína/72 hours. Results: the observed concentrations for different fatty acids, enable us to differentiate fibroblasts of patients suffering LCHAD deficiency from normal fibroblasts. Conclusion: A characteristic profile for this deficiency was found using this technique which its in vitro diagnosis.
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