Friedrich K. Trefz
Tuebingen, BW 72076, Germany
Last Updated: 09/26/2026
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Found 35 publications
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Journal: Molecular genetics and metabolism
Published: January 05, 2025
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Journal: International journal of molecular sciences
Published: October 02, 2024
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Journal: Molecular genetics and metabolism
Published: January 31, 2024
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.
Journal: Orphanet journal of rare diseases
Published: January 16, 2024
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Journal: Journal of inherited metabolic disease
Published: August 24, 2023
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Journal: Molecules (Basel, Switzerland)
Published: April 24, 2023
Caring for Ukrainian refugee children with acute and chronic diseases.
Journal: Lancet (London, England)
Published: March 12, 2022
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.
Journal: Metabolites
Published: September 13, 2021
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Journal: Orphanet journal of rare diseases
Published: July 26, 2021
Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data.
Journal: Molecular genetics and metabolism reports
Published: February 25, 2021
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Journal: The Journal of pediatrics
Published: January 29, 2021
Last Updated: 09/26/2026