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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 ...
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 ...