Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

Sara Guillén López; Lizbeth López-Mejía; Rosa Itzel Carrillo-Nieto; Leticia Belmont Martínez; Isabel Ibarra González; Cynthia Fernández-Lainez; Marcela Vela-Amieva

doi:10.18233/APM44No1pp75-822573

Sara Guillén López Instituto Nacional de Pediatría http://orcid.org/0000-0001-6874-8662
Lizbeth López-Mejía Instituto Nacional de Pediatría
Rosa Itzel Carrillo-Nieto Instituto Nacional de Pediatría
Leticia Belmont Martínez Instituto Nacional de Pediatría
Isabel Ibarra González Instituto Nacional de Pediatría
Cynthia Fernández-Lainez Instituto Nacional de Pediatría
Marcela Vela-Amieva Instituto Nacional de Pediatría

DOI: https://doi.org/10.18233/APM44No1pp75-822573

Resumen

Los errores innatos del metabolismo intermedio (EIMi) son un grupo heterogéneo de enfermedades monogénicas pertenecientes al grupo de las enfermedades raras (ER), que afectan vías metabólicas de la síntesis o catabolismo de los hidratos de carbono, aminoácidos o lípidos.1 Estas enfermedades conllevan anormalidades bioquímicas que pueden cuantificarse en diferentes fluidos biológicos, lo que permite su diagnóstico.

Biografía del autor/a

Sara Guillén López, Instituto Nacional de Pediatría

Investigador en Ciencias Médicas tipo B en Laboratorio de Errores Innatos del Metabolismo y Tamiz

Citas

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