Article
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Pediatrics - 1 Jun 2013
Keil 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
Abstract excerpt
OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU). The purpose of this study was to assess genotypes and data on the long-term effects of BH4/sapropterin on metabolic control and patient-related outcomes in 6 large European countries. METHODS: A questionnaire was developed to...
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