The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria
AMJ van Wegberg, JC van der Weerd… - Journal of Inherited …, 2024 - Wiley Online Library
Recent studies in PKU patients identified alternative biomarkers in blood using untargeted
metabolomics. To test the added clinical value of these novel biomarkers, targeted …
metabolomics. To test the added clinical value of these novel biomarkers, targeted …
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H …
C Cannet, A Bayat, G Frauendienst-Egger, P Freisinger… - Molecules, 2023 - mdpi.com
Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the
phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation …
phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation …
No evidence for systemic low‐grade inflammation in adult patients with early‐treated phenylketonuria: The INGRAPH study
C Giret, Y Dos Santos, H Blasco, C Paget… - JIMD …, 2023 - Wiley Online Library
The question of an increased cardiovascular risk has been recently raised in adults with
phenylketonuria (PKU). As low‐grade systemic inflammation increases cardiovascular risk …
phenylketonuria (PKU). As low‐grade systemic inflammation increases cardiovascular risk …
Half-Dose versus Single-Dose Gadobutrol for Extracellular Volume Measurements in Cardiac Magnetic Resonance
P Doeblin, F Steinbeis, M Witzenrath… - Journal of …, 2023 - mdpi.com
Background: Cardiac magnetic resonance (CMR) imaging with gadolinium-based contrast
agents offers unique non-invasive insights into cardiac tissue composition. Myocardial …
agents offers unique non-invasive insights into cardiac tissue composition. Myocardial …
Evaluation of the effect of obesity, dietary glycemic index and metabolic profiles on the cardiovascular risk in children with classical phenylketonuria
Objectives To compare the glycemic index (GI), obesity, echocardiographic, and arterial
stiffness measurements with the healthy control group to evaluate the cardiovascular risk of …
stiffness measurements with the healthy control group to evaluate the cardiovascular risk of …