Adrenoleucodistrofia ligada al cromosoma X
Abstract
Teniendo en cuenta que en los próximos meses en el Centro Nacional de Genética Médica de nuestro país se podrán realizar diagnósticos molecular de diferentes tipos de enfermedades, incluyendo las enfermedades peroxisomales. Se realiza una Revisión Bibliográfica de la Adrenoleucodistrofía ligada al cromosoma X, que es una de las enfermedades peroxisomales mas frecuentes, mostrando los aspectos mas relevantes de la entidad en cuanto a Genética, fisiopatología, clínica, diagnóstico, y tratamiento con el objetivo de mejorar el nivel de conocimiento y garantizar un diagnóstico precoz lo cual permitirá un manejo adecuado y eficaz de acuerdo a las posibilidades existentes en nuestro medio.
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