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Title: | Method for diagnosing farber's disease |
Other Titles: | Método de diagnóstico de la enfermedad de farber |
Authors: | Fabriàs, Gemma ![]() ![]() ![]() ![]() ![]() |
Issue Date: | 5-Jan-2012 |
Citation: | WO2012001191 A1 |
Abstract: | [EN] The invention relates to a family of compounds having a structural nucleus of amino alcohol derivatives and to the
use thereof for the detection of Farber's disease, using a diagnosis method performed outside the human body, comprising the use
of said compounds bound to a fluorophore, chromophore or luminophore as substrates of the enzyme acid ceramidase, the
functionality of which is reduced in patients with this disease. In addition, the invention relates to a kit comprising at least one of
the aforementioned compounds for use in diagnosing the disease from a biological sample isolated from a person. [ES] La presente invención se refiere a una familia de compuestos con un núcleo estructural de derivados de aminoalcohol y a su uso para la detección de la enfermedad de Farber aplicando un método de diagnóstico fuera del cuerpo humano en el que se emplean dichos compuestos unidos a un fluoroforo, cromó foro o luminoforo como sustratos de la enzima ceramidasa ácida, cuya funcionalidad se encuentra disminuida en pacientes con dicha enfermedad. Además la presente invención se refiere a un kit que comprende al menos uno de estos compuestos para utilizar en el diagnóstico de la enfermedad a partir de una muestra biológica aislada de un individuo. |
URI: | http://hdl.handle.net/10261/58878 |
Appears in Collections: | (IQAC) Patentes |
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WO2012001191A1.pdf | 1,45 MB | Adobe PDF | ![]() View/Open |
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