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Annika Ohlsson currently works at the Department of Laboratory Medicine, Karolinska Institutet. Annika does research in Pediatrics, Clinical Chemistry and Genetic Epidemiology. Their most recent publication is 'The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014'.
Newborn screening (NBS) for phenylketonuria (PKU) which has a continuum of disease severities has been performed for more than 50 years. The screening method has undergone a continuous development with not only improvements of the positive predictive value but also identification of milder forms of the disease. With the introduction of genetic test...
Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening if not treated. While newborn screening for PKU has become almost universal, galactosemia is includ...
Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried blood spots with a semiquantitati...
A 31-year old patient who is compound heterozygous for the two galactose-1-phosphate uridyltransferase mutations p.Q188R and p.R333W delivered two healthy boys after uneventful spontaneous pregnancies. The patient chose to breast-feed her first baby and her galactose metabolites in blood and urine were monitored closely. A temporary increase in her...