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2023, Número 1

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Acta Pediatr Mex 2023; 44 (1)


Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

López-Mejía L, Guillén-López S, Carrillo-Nieto RI, Belmont-Martínez L, Ibarra-González I, Fernández-Lainez C, Vela-Amieva M

Idioma: Español
Referencias bibliográficas: 39
Paginas: 75-82
Archivo PDF: 208.14 Kb.


FRAGMENTO

INTRODUCCIÓN

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. Estas enfermedades conllevan anormalidades bioquímicas que pueden cuantificarse en diferentes fluidos biológicos, lo que permite su diagnóstico.
En la actualidad. existen diferentes intervenciones terapéuticas efectivas para un número importante de EIMi. La correcta prescripción de los medicamentos para los EIMi, en conjunto con una detección temprana y adecuado apego a los tratamientos, conducen a un mejor desenlace clínico.


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