Browsing Centro para el Estudio de Enfermedades Genéticas, Metabólicas y Discapacidades (CEEGMD) by Issue Date
Now showing items 21-32 of 32
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The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)Technological advances are revolutionizing the way in which we can diagnose and screen whole popula-tions for inborn errors of metabolism. These advances are also necessitating a reevaluation of the spectrum of metabolic ... -
Application of tandem mass spectrometry to biochemical genetics and newborn screening
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)Tandem mass spectrometry (MS/MS) has become a key technology in the fields of biochemical genetics and newborn screening. The development of electrospray ionisation (ESI) and associated automation of sample handling and ... -
Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)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 ... -
Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)Objective: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organ-ic acidemia disorders in the Wisconsin Newborn Screening Program. -
Newborn screening as a model for population screening
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)The incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom ... -
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)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 ... -
Mass Spectrometry-based Diagnostics: The Upcoming Revolution in Disease Detection Has Already Arrived
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)Interference by hemoglobin is clearly labeled in the VITROS ® Troponin I assay’s “Instructions For Use” and Package Insert. The hemoglobin con-centrations used and the differences measured are stated under“Limita-tions ... -
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)Background:Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, spe-cific, reliable, and comprehensive than traditional as-says, ... -
Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)Despite a number of published reports, there is limited infor-mation about carnitine metabolism in the newborn. To establish normative data, we analyzed whole-blood carnitine concentra-tions in 24,644 newborns at age 1.85 ... -
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2004)Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results ... -
Investigación sobre el rol del nutricionista como comunicador en la prevención secundaria de enfermedades genéticas metabólicas de detección obligatoria en la Argentina. (Prueba Piloto)
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, Agosto2004)En la actualidad se reconocen más de 300 enfermedades humanas provocadas por errores congénitos del metabolismo. Un gran número de estas patologías conducen a retraso del desarrollo físico y mental y en algunos casos, ... -
El derecho a la salud de los niños, niñas y adolescentes : necesidad de reforma de la ley 534 sobre la detección de enfermedades congénitas
(Universidad de Belgrano CEEGMD - Facultad de Ciencias Exactas, Junio 2005)I ENCUENTRO REGIONAL DE DERECHO DE FAMILIA EN EL MERCOSUR. Facultad de Derecho de la Universidad de Buenos Aires, 23, 25 y 25 de junio de 2005 En las últimas décadas de siglo XX, el mundo científico comenzó a ...