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

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis

por Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Publicado 2023