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 …

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 …

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 …

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 …

Evaluation of the effect of obesity, dietary glycemic index and metabolic profiles on the cardiovascular risk in children with classical phenylketonuria

BK Yılmaz, A Baykan, F Kardaş, M Kendirci - Molecular Genetics and …, 2023 - Elsevier
Objectives To compare the glycemic index (GI), obesity, echocardiographic, and arterial
stiffness measurements with the healthy control group to evaluate the cardiovascular risk of …