Ontology highlight
ABSTRACT:
SUBMITTER: Kubaski F
PROVIDER: S-EPMC7711587 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Kubaski Francyne F Sousa Inês I Amorim Tatiana T Pereira Danilo D Trometer Joe J Souza Alexandre A Ranieri Enzo E Polo Giulia G Burlina Alberto A Brusius-Facchin Ana Carolina AC Netto Alice Brinckmann Oliveira ABO Tomatsu Shunji S Giugliani Roberto R
International journal of neonatal screening 20201113 4
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, wi ...[more]