Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

Por Leuders, Sarah, Wolfgart, Eva, Ott, Torsten, du Moulin, Marcel, van Teeffelen-Heithoff, Agnes, Vogelpohl, Lydia, Och, Ulrike, Marquardt, Thorsten, Weglage, Josef, Feldmann, Reinhold, Rutsch, Frank
Publicado em 2013

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado em 2013