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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 ...
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 ...