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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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Objective: to analyse the oxidation rate of tritiated substrates in fibroblasts of patients suffering the deficiency and controls.
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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