Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.
This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inb...
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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| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2837 |
| Aporte de: |
| Sumario: | This review is intended to serve as a practical guide for geneticists to
current applications of tandem mass spectrometry to newborn screening. By making
dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass
spectrometry has improved the newborn detection of inborn errors of metabolism.
Its innate ability to detect and quantify multiple analytes from one prepared blood
specimen in a single analysis permits broad recognition of amino acid, fatty acid, and
organic acid disorders. An increasing number of newborn screening programs are either
utilizing or conducting pilot studies with tandem mass spectrometry. It is therefore
imperative that the genetics community be familiar with tandem mass spectrometric
newborn screening |
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