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Now showing items 11-19 of 19
Application of tandem mass spectrometry to biochemical genetics and newborn screening
(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 ...
Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
(2001)
United States legislatures are debating whether to use
tandem mass spectrometry to expand the roster of
inherited disorders tested in newborn screening pro-grams. The debate is hampered because published finan-cial data ...
Una herramienta para la focalización de políticas sociales intrgradas
(2001)
Herramientas para la focalizacion de políticas sociales integradas
Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism.
(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 ...
Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry
(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 ...
Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?
(2001)
There is increasing emphasis on the importance of practising
evidence-based medicine. Randomized controlled trials are the standard way
to assess the bene¢ts of an intervention, and observational studies are not ...
Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
(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
(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 ...
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience
(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 ...