| Literature DB >> 6835136 |
D Pitt, J Connelly, I Francis, B Wilcken, D A Brown, E Robertson, G Hill, P Masters, J Raby, J McFarlane, F Bowling, J Hancock.
Abstract
Since screening of newborn infants for phenylketonuria (PKU) by the Guthrie bacterial inhibition assay was established in the 1960s, 3 017 703 infants have been tested in Australia. Two hundred and fifty-one cases of PKU (0.83/10 000) and six cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) (0.02/10 000) have been detected. In 1981, 11 infants with PKU were detected. Screening for congenital hypothyroidism was carried out in seven States, and 66 new cases were detected in 1981 (2.13/10 000). In Adelaide, 154 310 infants have been tested for galactosaemia and a total of seven cases have now been detected (0.45/10 000). In New South Wales, 35 955 infants have been tested for cystic fibrosis of the pancreas, and 17 cases were found (4.73/10 000).Entities:
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Year: 1983 PMID： 6835136 DOI： 10.5694/j.1326-5377.1983.tb136112.x
Source DB: PubMed Journal: Med J Aust ISSN： 0025-729X Impact factor: 7.738