Review of neonatal screening programme for phenylketonuria.

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منابع مشابه

Audit of neonatal screening programme for phenylketonuria and congenital hypothyroidism.

The performance of the neonatal screening programme was audited against clinical standards in the Bath clinical area from 1 April 1994 to 31 March 1996. The standards and policy were agreed by local service provider representatives of the screening and were audited, using laboratory and child health computer systems and medical records. Two annual reports were produced with recommendations for ...

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Neonatal screening for phenylketonuria.

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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ژورنال

عنوان ژورنال: BMJ

سال: 1991

ISSN: 0959-8138,1468-5833

DOI: 10.1136/bmj.303.6798.333