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Neonatal screening of phenylketonuria and hypothyroidism in france a 12 years experience



Neonatal screening of phenylketonuria and hypothyroidism in france a 12 years experience



Annales de Biologie Clinique 46(6): 387-392



The authors report their experience in the systematic, co-ordinated and controlled neonatal screening, in France: a coverage of approximately 100 percent for several years, nearly 13 million tests for phenylketonuria and more than 7 million for hypothyroidism, almost 850 phenylketonuric children and more than 1600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2500 children, doomed to mental retardation, to have a normal growth.

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Accession: 005963832

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PMID: 3177978


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