Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses
Cannet, Claire, Frauendienst‐Egger, Georg, Freisinger, Peter, Götz, Hermann, Götz, Madalina, Himmelreich, Nastassja, Kock, Vanessa, Spraul, Manfred, Bus, Christine, Biskup, Saskia, Trefz, Friedrich
Published in NMR in biomedicine (01.04.2023)
Published in NMR in biomedicine (01.04.2023)
Get full text
Journal Article
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Published in Molecules (Basel, Switzerland) (22.06.2023)
Published in Molecules (Basel, Switzerland) (22.06.2023)
Get full text
Journal Article
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency
Ergezinger, Katrin, Jeschke, Reinhard, Frauendienst-Egger, Georg, Korall, Herbert, Gibson, K. Michael, Schuster, Volker H.
Published in Annals of neurology (01.11.2003)
Published in Annals of neurology (01.11.2003)
Get full text
Journal Article
Successful intrauterine treatment of a patient with cobalamin C defect
Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.
Published in Molecular genetics and metabolism reports (01.03.2016)
Published in Molecular genetics and metabolism reports (01.03.2016)
Get full text
Journal Article
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
Trefz, Friedrich, Frauendienst-Egger, Georg, Dienel, Gerald, Cannet, Claire, Schmidt-Mader, Brigitte, Haas, Dorothea, Blau, Nenad, Himmelreich, Nastassja, Spraul, Manfred, Freisinger, Peter, Dobrowolski, Steven, Berg, Daniela, Pilotto, Andrea
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
Get full text
Journal Article
Phenylketonuria Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo [sup.1]H-NMR Analysis
Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Published in Molecules (Basel, Switzerland) (01.06.2023)
Published in Molecules (Basel, Switzerland) (01.06.2023)
Get full text
Journal Article
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
Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Published in Molecules (Basel, Switzerland) (22.06.2023)
Get full text
Published in Molecules (Basel, Switzerland) (22.06.2023)
Journal Article
Successful intrauterine treatment of a patient with cobalamin C defect
Trefz, Friedrich K, Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R
Published in Molecular genetics and metabolism reports (01.03.2016)
Published in Molecular genetics and metabolism reports (01.03.2016)
Get full text
Report