1.
Mol Genet Metab Rep
; 38: 101057, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38469096
RESUMO
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.