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Análisis de datos de un grupo de pacientes para: establecer valores de referencia para tsh y t4, y comparación de dos métodos para PKU.
(2001)
La pesquisa de enfermedades congénitas que se trasmiten en forma autosomica
recesiva, entre ellas el hipotiroidismo congénito primario y la fenilcetonuria,
producen en los recién nacidos, si no son detectadas a tiempo ...
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
(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
(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 ...
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
(2002)
Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a
newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, ...
Newborn screening: rationale for a comprehensive, fully integrated public health system
(2002)
Newborn screening has existed for approximately four decades [1]. During that period of time, newborn screening has
evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part ...
Newborn Screening by Tandem Mass Spectrometry: Gaining Experience
(2001)
Major expansion of newborn screening for inherited met-abolic disorders is taking place across the US and around
the world as newer analytical technology is applied.
Historically, each disorder to be screened required ...
Phenylketonuria (PKU): Screening and Management
(2000)
INTRODUCTION
Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately
one of every 10,000 infants in the United States is born with PKU, which usually ...
Tandem mass spectrometry in newborn screening
(2000)
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 ...
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
(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, ...
The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
(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 ...