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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 ...
New Parents' Guide to PKU.
()
The purpose of this booklet is to help to familiarize you, as new parents of a
child with phenylketonuria (called PKU), with PKU and its treatment. It will
also help to orient you to the PKU clinic and the people there ...
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 ...
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 ...
A Teacher's Guide to PKU
(1985)
Phenylketonuria (or PKU) is an inherited disorder of protein metabolism. Children with PKU do not
have a functioning enzyme to metabolize or break down amino acid call phenylalanine (PHE for
short), which is found in ...
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 ...
PKU Primer. For comunity health care providers treating adolescents and adults with PKU
()
PKU Primer. For comunity health care providers treating adolescents and adults with PKU
A Babysitters' Guide to PKU.
(1987)
You are babysitting a child and there is a special restriction. The child has PKU and you
have never before heard of that.
PKU, stands for "phenylketonuria"
This child's body cannot use protein foods which contain ...
Guía PKU? - España (guía que nos introduce en el complejo campo de los errores congénitos del metabolismo).
(1997)
PKU?nace con la idea de ser una pequeña guía-manual que nos introduzca
en este complejo campo de los errores congénitos del metabolismo. Uno de los
más frecuentes y mejor conocidos y que llega a afectar a 1:10.000 recién ...