Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Orphanet Journal Of Rare Diseases
Anjema, Karen K; van Rijn, Margreet M; Hofstede, Floris C FC; Bosch, Annet M AM; Hollak, Carla E M CE; Rubio-Gozalbo, Estela E; de Vries, Maaike C MC; Janssen, Mirian C H MC; Boelen, Carolien C A CC; Burgerhof, Johannes G M JG; Blau, Nenad N; Heiner-Fokkema, M Rebecca MR; van Spronsen, Francjan J FJ