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Molecules (Basel, Switzerland)|July 14, 2023
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo <sup>1</sup>H-NMR AnalysisClaire Cannet, Allan Bayat, Georg Frauendienst-Egger, et al.
NMR in Biomedicine|October 20, 2022
Ex vivo proton spectroscopy (<sup>1</sup> H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analysesClaire Cannet, Georg Frauendienst-Egger, Peter Freisinger, et al.
Journal of Inherited Metabolic Disease|May 3, 2014
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesFrançois Feillet, Ania C Muntau, François-Guillaume Debray, et al.
Molecular Genetics and Metabolism|June 8, 2011
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b studyBarbara K Burton, Maria Nowacka, Julia B Hennermann, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 17, 2009
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24Shazia Ashraf, Bethan E Hoskins, Hassan Chaib, et al.
Pediatrics|December 5, 2003
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcomeFlemming Güttler, Colleen Azen, Per Guldberg, et al.
Molecular Genetics and Metabolism|October 5, 2013
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomesMaureen Cleary, Friedrich Trefz, Ania C Muntau, et al.
Molecular Genetics and Metabolism|March 27, 2024
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patientsFriedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, et al.
Molecular Genetics and Metabolism Reports|May 26, 2021
Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims dataFriedrich Trefz, Ania C Muntau, Kim M Schneider, et al.
Orphanet Journal of Rare Diseases|February 29, 2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigationClaire Cannet, Andrea Pilotto, Júlio César Rocha, et al.
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