A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials

por Barbara K. Burton, Anne Skalicky, Christoph Baerwald, Deborah A. Bilder, Cary O. Harding, Aaron B. Ilan, Elaina Jurecki, Nicola Longo, David T. Madden, H. Serap Sivri, Gisela Wilcox, Janet Thomas, Kathleen Delaney
Publicado 2021

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

por Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publicado 2021