Tandem mass spectrometry in newborn screening

Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine esters in blood and urine of children suspected of having inborn errors of metab-olism. Indeed, acylcarnitine analysis is a better diagnostic test for disorders of fatty acid oxidation than organic...

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Detalles Bibliográficos
Autores principales: Charrow, Joel, Goodman, Stephen I., McCabe, Edward R.G., Rinaldo, Piero
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:
Tandem mass spectrometry
newborn screening
Disorder
Tandem espectrometría de masas
evaluación del recién nacido
Trastorno
Acceso en línea:http://repositorio.ub.edu.ar/handle/123456789/2905
Aporte de:
Repositorio Institucional - Universidad de Belgrano (UB) de Universidad de Belgrano
id I36-R142-123456789-2905
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 Tandem mass spectrometry
newborn screening
Disorder
Tandem espectrometría de masas
evaluación del recién nacido
Trastorno
spellingShingle Tandem mass spectrometry
newborn screening
Disorder
Tandem espectrometría de masas
evaluación del recién nacido
Trastorno
Charrow, Joel
Goodman, Stephen I.
McCabe, Edward R.G.
Rinaldo, Piero
Tandem mass spectrometry in newborn screening
topic_facet Tandem mass spectrometry
newborn screening
Disorder
Tandem espectrometría de masas
evaluación del recién nacido
Trastorno
description Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine esters in blood and urine of children suspected of having inborn errors of metab-olism. Indeed, acylcarnitine analysis is a better diagnostic test for disorders of fatty acid oxidation than organic acid analysis because it can often detect these conditions when the patient is not acutely ill.1 More recently, MS/MS has been used in pilot programs to screen newborns for these conditions and for dis-orders of amino and organic acid metabolism as well. The pur-pose of this article is to describe MS/MS and discuss its poten-tial role in newborn screening programs.
format Article
author Charrow, Joel
Goodman, Stephen I.
McCabe, Edward R.G.
Rinaldo, Piero
author_facet Charrow, Joel
Goodman, Stephen I.
McCabe, Edward R.G.
Rinaldo, Piero
author_sort Charrow, Joel
title Tandem mass spectrometry in newborn screening
title_short Tandem mass spectrometry in newborn screening
title_full Tandem mass spectrometry in newborn screening
title_fullStr Tandem mass spectrometry in newborn screening
title_full_unstemmed Tandem mass spectrometry in newborn screening
title_sort tandem mass spectrometry in newborn screening
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/123456789/2905
work_keys_str_mv AT charrowjoel tandemmassspectrometryinnewbornscreening
AT goodmanstepheni tandemmassspectrometryinnewbornscreening
AT mccabeedwardrg tandemmassspectrometryinnewbornscreening
AT rinaldopiero tandemmassspectrometryinnewbornscreening
bdutipo_str Repositorios
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