TY  - JOUR 
AU  - Maissen-Abgottspon, S.
AU  - Muri, R.
AU  - Hochuli, M.
AU  - Reismann, P.
AU  - Barta, A.G.
AU  - Alptekin, I.M.
AU  - Hermida Ameijeiras, Alvaro
AU  - Burlina, A.P.
AU  - Burlina, A.B.
AU  - Cazzorla, C.
AU  - Carretta, J.
AU  - Trepp, R.
AU  - Everts, R.
PY  - 2023
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.11940/21551
AB  - Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant....
LA  - eng
KW  - Infant, Newborn
KW  - Pregnancy
KW  - Humans
KW  - Adult
KW  - Female
KW  - Quality of Life
KW  - Cross-Sectional Studies
KW  - Phenylketonurias
KW  - Health Status
KW  - Neonatal Screening
KW  - Phenylalanine
TI  - Health-related quality of life in a european sample of adults with early-treated classical PKU
DO  - 10.1186/s13023-023-02917-w
T2  - Orphanet Journal of Rare Diseases
KW  - AS Santiago
KW  - CHUS
VL  - 18
ER  -