Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

ABSTRACT. Objective. The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Germany and to assess the outcome for the patients that were diagnosed.

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Detalles Bibliográficos
Autores principales: Schulze, Andreas, Lindner, Martin, Kohlmuller, Dirk, Olgemolle, Katharina, Mayatepek, Ertan, Hoffman, Georg F.
Formato: Artículo
Lenguaje:Inglés
Publicado: Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas 2014
Materias:
FAO
fatty acid oxidation
PKU
phenylketonuria
fenilcetonuria
oxidación de ácidos grasos
Acceso en línea:http://repositorio.ub.edu.ar/handle/123456789/2845
Aporte de:
Repositorio Institucional - Universidad de Belgrano (UB) de Universidad de Belgrano
Descripción
Sumario:ABSTRACT. Objective. The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Germany and to assess the outcome for the patients that were diagnosed.

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