Neonatal Screening in Sweden and Disease-Causing Variants in Phenylketonuria, Galactosaemia, and Biotinidase Deficiency
October 2016
in “
OPAL (Open@LaTrobe) (La Trobe University)
”
Studysummary This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
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