Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
ContributorsKeil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; Burlina, Alberto; Bélanger-Quintana, Amaya; Couce, Maria L; Feillet, Francois; Cerone, Roberto; Lotz-Havla, Amelie S; Muntau, Ania C; Bosch, Annet M; Meli, Concetta A P; Billette de Villemeur, Thierry; Kern, Ilse; Riva, Enrica; Giovannini, Marcello; Damaj, Lena; Leuzzi, Vincenzo; Blau, Nenad
Published inPediatrics, vol. 131, no. 6, p. e1881-1888
Publication date2013
Abstract
Keywords
- Adolescent
- Adult
- Biopterin/analogs & derivatives/therapeutic use
- Child
- Child, Preschool
- Diet
- Europe
- Follow-Up Studies
- Genotype
- Humans
- Infant
- Middle Aged
- Mutation
- Phenotype
- Phenylalanine/blood
- Phenylketonurias/blood/drug therapy
- Questionnaires
- Retrospective Studies
- Treatment Outcome
- Young Adult
Affiliation entities
Research groups
Citation (ISO format)
KEIL, Stefanie et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. In: Pediatrics, 2013, vol. 131, n° 6, p. e1881–1888. doi: 10.1542/peds.2012-3291
Main files (1)
Article (Published version)
Identifiers
- PID : unige:35270
- DOI : 10.1542/peds.2012-3291
- PMID : 23690520
Journal ISSN0031-4005
