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
id I36-R142-123456789-2845
record_format dspace
institution Universidad de Belgrano
institution_str I-36
repository_str R-142
collection Repositorio Institucional - Universidad de Belgrano (UB)
language Inglés
topic FAO
fatty acid oxidation
PKU
phenylketonuria
fenilcetonuria
oxidación de ácidos grasos
spellingShingle FAO
fatty acid oxidation
PKU
phenylketonuria
fenilcetonuria
oxidación de ácidos grasos
Schulze, Andreas
Lindner, Martin
Kohlmuller, Dirk
Olgemolle, Katharina
Mayatepek, Ertan
Hoffman, Georg F.
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
topic_facet FAO
fatty acid oxidation
PKU
phenylketonuria
fenilcetonuria
oxidación de ácidos grasos
description 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.
format Article
author Schulze, Andreas
Lindner, Martin
Kohlmuller, Dirk
Olgemolle, Katharina
Mayatepek, Ertan
Hoffman, Georg F.
author_facet Schulze, Andreas
Lindner, Martin
Kohlmuller, Dirk
Olgemolle, Katharina
Mayatepek, Ertan
Hoffman, Georg F.
author_sort Schulze, Andreas
title Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
title_short Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
title_full Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
title_fullStr Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
title_full_unstemmed Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
title_sort expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
publisher Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
publishDate 2014
url http://repositorio.ub.edu.ar/handle/123456789/2845
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