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Instituto Nacional de Salud Pública

2017, Número 4

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salud publica mex 2017; 59 (4)


Tamiz bioquímico y metabolómico en el estudio de los trastornos del desarrollo intelectual en México

Ibarra-González I, Rodríguez-Valentín R, Lazcano-Ponce E, Vela-Amieva M

Idioma: Ingles.
Referencias bibliográficas: 25
Paginas: 423-428
Archivo PDF: 226.12 Kb.


RESUMEN

Objetivo. Los errores innatos del metabolismo (EIM) son condiciones genéticas que pueden asociarse con trastornos del desarrollo intelectual (TDI). El objetivo de este estudio es contribuir a la caracterización metabólica de los pacientes con TDI de etiología desconocida. Material y métodos. Se realizará un tamiz metabólico mediante espectrometría de masas-tándem y fluorometría para descartar EIM; además, se analizará el perfil metabolómico de los pacientes con TDI. Conclusión. La identificación de perfiles metabolómicos asociados con los TDI de etiología desconocida contribuirá al desarrollo de nuevos esquemas diagnósticos y terapéuticos para la prevención y tratamiento de los TDI en México.


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