Successful intrauterine treatment of a patient with cobalamin C defect

por Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.
Publicado 2016

Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation

por Haas, Dorothea, Hauke, Jana, Schwarz, Kathrin V., Consalvi, Lucia, Trefz, Friedrich K., Blau, Nenad, Hoffmann, Georg F., Burgard, Peter, Garbade, Sven F., Okun, Jürgen G.
Publicado 2021

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

por Lindner, Martin, Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Schwab, Karl O, Tacke, Uta, Trefz, Friedrich K, Mengel, Eugen, Wendel, Udo, Leichsenring, Michael, Burgard, Peter, Hoffmann, Georg F
Publicado 2011

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

por Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Publicado 2015

(1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

por Saffari, Afshin, Cannet, Claire, Blaschek, Astrid, Hahn, Andreas, Hoffmann, Georg F., Johannsen, Jessika, Kirsten, Romy, Kockaya, Musa, Kölker, Stefan, Müller-Felber, Wolfgang, Roos, Andreas, Schäfer, Hartmut, Schara, Ulrike, Spraul, Manfred, Trefz, Friedrich K., Vill, Katharina, Wick, Wolfgang, Weiler, Markus, Okun, Jürgen G., Ziegler, Andreas
Publicado 2021