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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.
Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K, Bosch AM. Regnault A, et al. Among authors: bosch am. Orphanet J Rare Dis. 2015 May 10;10:59. doi: 10.1186/s13023-015-0261-6. Orphanet J Rare Dis. 2015. PMID: 25958326 Free PMC article.
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Keil S, et al. Among authors: bosch am. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520
174 results