Search for dissertations about: "Annika Ohlsson"

Found 1 swedish dissertation containing the words Annika Ohlsson.

2. 1. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency

   Author : Annika Ohlsson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Phenylketonuria, galactosaemia and biotinidase deficiency were the first three inborn errors of metabolism to be included in the Swedish programme. This thesis describes these conditions with an emphasis on screening performance and disease-causing genetic variants in the patients. READ MORE