Current Loss-of-Function Mutations in the Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment

por Cassio, Alessandra, Nicoletti, Annalisa, Rizzello, Angela, Zazzetta, Emanuela, Bal, Milva, Baldazzi, Lilia
Publicado 2013

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela
Publicado 2017