Neonatal screening for phenylketonuria.

نویسنده

  • M L Netzloff
چکیده

The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im­ prove the sensitivity of PKU screening procedures for newborns.

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منابع مشابه

Neonatal screening for congenital hypothyroidism and phenylketonuria in China.

BACKGROUND Neonatal screening is helpful to prevent serious disability and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. METHODS We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of ne...

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عنوان ژورنال:
  • Annals of clinical and laboratory science

دوره 12 5  شماره 

صفحات  -

تاریخ انتشار 1982