Revista de Medicina de Laboratorio 00150
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http://dx.doi.org/10.20960/revmedlab.00150
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Revisiones - Metaanálisis
Utilidad de la espectrometría de masas para el análisis de metabolitos en líquido cefalorraquídeo de pacientes con errores congénitos del metabolismo
Maria Antònia Caro-Miró, Blai Morales-Romero, Judit García-Villoria
Prepublicado: 2022-12-13
Publicado: 2023-01-05
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Compártelo:
Los errores congénitos del metabolismo de los neurotransmisores son enfermedades poco prevalentes que cursan con síntomas en el sistema nervioso central y, en algunos casos, afectan también a nivel periférico. En general, estos pacientes tienen que pasar por largos procesos hasta conocer su diagnóstico definitivo. El análisis de los metabolitos en el líquido cefalorraquídeo por espectrometría de masas en tándem presenta una buena sensibilidad y especificidad, agiliza el diagnóstico bioquímico y optimiza el uso de la muestra. En los últimos años, se tiende al estudio de paneles de metabolitos para facilitar el diagnóstico.
Palabras Clave: Enfermedades genéticas congénitas. Agentes neurotransmisores. Aminas biógenas. Líquido cefalorraquídeo. Espectrometría de masas.
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