The challenge of long-term tetrahydrobiopterin (BH(4)) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

Por Thiele, Alena G., Rohde, Carmen, Mütze, Ulrike, Arelin, Maria, Ceglarek, Uta, Thiery, Joachim, Baerwald, Christoph, Kiess, Wieland, Beblo, Skadi
Publicado no Mol Genet Metab Rep (2015)

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Por Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin
Publicado em 2013