Publications by authors named "Friedrich Trefz"

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The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.
Yann Dos Santos, Friedrich Trefz, Maria Giżewska, Annemiek M J van Wegberg, Bruno Lefort

Orphanet J Rare Dis· April 2025

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Afshin Saffari, Moritz Niesert, Claire Cannet, Astrid Blaschek, Andreas Hahn, Friedrich K Trefz

Int J Mol Sci· November 2024

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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.
François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Friedrich K Trefz

J Inherit Metab Dis· July 2024

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Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Friedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, Claire Cannet, Brigitte Schmidt-Mader

Mol Genet Metab· May 2024

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Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo H-NMR Analysis.
Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Friedrich Trefz

Molecules· June 2023

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Ex vivo proton spectroscopy ( H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.
Claire Cannet, Georg Frauendienst-Egger, Peter Freisinger, Hermann Götz, Madalina Götz, Friedrich Trefz

NMR Biomed· April 2023

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Caring for Ukrainian refugee children with acute and chronic diseases.
Maria Giżewska, Annemiek M J van Wegberg, François Maillot, Friedrich Trefz, Francjan J van Spronsen

Lancet· April 2022

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Annemiek M J van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui

J Pediatr· December 2021

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H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F Hoffmann, Friedrich K Trefz

Orphanet J Rare Dis· October 2021

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Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.
Dorothea Haas, Jana Hauke, Kathrin V Schwarz, Lucia Consalvi, Friedrich K Trefz

Metabolites· October 2021

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Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data.
Friedrich Trefz, Ania C Muntau, Kim M Schneider, Julia Altevers, Christian Jacob

Mol Genet Metab Rep· June 2021

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Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Andrea Pilotto, Carl M Zipser, Edytha Leks, Dorothea Haas, Gwendolyn Gramer, Friedrich Trefz

Neurology· January 2021

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The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K Burton, Friedrich K Trefz

Am J Hum Genet· August 2020

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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Friedrich Trefz

Orphanet J Rare Dis· February 2020

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Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Friedrich Trefz

J Inherit Metab Dis· May 2019

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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Sven F Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K Trefz

Genet Med· March 2019

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Friedrich K Trefz

Am J Hum Genet· February 2017

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Successful intrauterine treatment of a patient with cobalamin C defect.
Friedrich K Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala

Mol Genet Metab Rep· March 2016

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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Maria Giżewska, Anita MacDonald, Amaya Bélanger-Quintana, Alberto Burlina, Maureen Cleary, Friedrich K Trefz

Eur J Pediatr· February 2016

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D Sean Froese, Terttu Suormala, Friedrich Trefz

J Inherit Metab Dis· January 2016

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The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
Friedrich K Trefz, Ania C Muntau, Florian B Lagler, Flavie Moreau, Jan Alm

JIMD Rep· June 2015

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Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.
Friedrich Trefz, Olaf Lichtenberger, Nenad Blau, Ania C Muntau, Francois Feillet

Mol Genet Metab· April 2015

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Management of adult patients with phenylketonuria: survey results from 24 countries.
Friedrich K Trefz, Francjan J van Spronsen, Anita MacDonald, François Feillet, Ania C Muntau

Eur J Pediatr· January 2015

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Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Sabine Fischer, Martina Huemer, Matthias Baumgartner, Federica Deodato, Diana Ballhausen, Friedrich Trefz

J Inherit Metab Dis· September 2014

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Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Maureen Cleary, Friedrich Trefz, Ania C Muntau, François Feillet, Francjan J van Spronsen

Mol Genet Metab· December 2013

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