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dc.contributor.authorChace, Donald H.
dc.contributor.authorKalas, Theodore A.
dc.contributor.authorNaylor, Edwin W.
dc.date.accessioned2014-08-04T18:55:51Z
dc.date.available2014-08-04T18:55:51Z
dc.date.issued2002
dc.identifier.urihttp://repositorio.ub.edu.ar/handle/123456789/2837
dc.description.abstractThis 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 screeninges_ES
dc.language.isoenes_ES
dc.publisher.EditorUniversidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
dc.relation.ispartofseriesAnnu. Rev. Genomics Hum. Genet.;2002. 3:17–45
dc.subjectNewborn screeninges_ES
dc.subjectAcylcarnitineses_ES
dc.subjectAmino acidses_ES
dc.subjectPKUes_ES
dc.subjectAminoácidoses_ES
dc.subjectAcilcarnitinases_ES
dc.subjectEvaluación del recién nacidoes_ES
dc.titleApplication of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.es_ES
dc.typeArticlees_ES


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