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...
Guardado en:
| Autores principales: | , , , |
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| 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
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| Materias: | |
| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2905 |
| Aporte de: |
| Sumario: | 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. |
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