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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 ...