Publications by authors named "Frederic Barbey"

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Hypertrophic cardiomyopathy: prevalence of disease-specific red flags.
Niccolò Maurizi, Emanuele Monda, Elena Biagini, Ella Field, Silvia Passantino, Frederic Barbey

Eur Heart J· August 2025

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Myocardial fibrosis in the posterior myocardium in Fabry disease is associated with global rather than regional longitudinal strain reduction.
Niccolo' Maurizi, Guillaume Barbey, Alessandra Pia Porretta, Sarah Hugelshofer, Dimitri Arangalage, Frédéric Barbey

Eur Heart J Cardiovasc Imaging· January 2025

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Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Fréderic Barbey

J Clin Lab Anal· January 2025

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Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy.
Niccolo Maurizi, Albina Nowak, Christiane Gruner, Mehdi Namdar, Christian Schmied, Guillaume Barbey, Frédéric Barbey

Heart· July 2024

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Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.
Frederic Barbey, Marie Maillard, Viviane Cina, Fadi Fakhouri

J Nephrol· December 2023

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Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease.
Abdellah Tebani, Frédéric Barbey, Olivier Dormond, Franklin Ducatez, Stéphane Marret

Transl Res· August 2023

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Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Constantin Gatterer, Dietrich Beitzke, Senta Graf, Max Lenz, Gere Sunder-Plassmann, Frédéric Barbey

Life (Basel)· May 2023

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Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity.
Albina Nowak, Olivier Dormond, Véronique Monzambani, Uyen Huynh-Do, Frédéric Barbey

Mol Genet Metab· October 2022

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A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Mary Gonzalez Melo, Andrea Orlando Fontana, David Viertl, Gilles Allenbach, John O Prior, Frederic Barbey

Mol Genet Metab· December 2021

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The use of Ga-EDTA PET allows detecting progressive decline of renal function in rats.
Andrea O Fontana, Mary Gonzalez Melo, Gilles Allenbach, Costa Georgantas, Ruijia Wang, Frederic Barbey

Am J Nucl Med Mol Imaging· December 2021

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[Chaperone molecules: The example of Fabry disease].
Frédéric Barbey, Pierre Monney, Olivier Dormond

Nephrol Ther· April 2021

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[Isolated left ventricular hypertrophy : is it a Fabry disease?].
Frédéric Barbey, Olivier Dormond, Véronique Monzambani, Guillaume Barbey, Mehdi Namdar

Rev Med Suisse· October 2020

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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
Albina Nowak, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl, Felix Beuschlein, Raphael Schiffmann, Frédéric Barbey

J Inherit Metab Dis· March 2020

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Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
João P Oliveira, Albina Nowak, Frédéric Barbey, Márcia Torres, José P Nunes

Eur J Med Genet· February 2020

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Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Frédéric Barbey, Olivier Lidove, Olivier Dormond

Clin Genet· May 2019

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Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Camelia Voinea, Elena Gonzalez Rodriguez, Catherine Beigelman-Aubry, Victor Leroy, Bérengère Aubry-Rozier, Frédéric Barbey

J Bone Miner Metab· March 2019

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Long-term Outcomes of Kidney Transplantation in Fabry Disease.
Sara Ersözlü, Robert J Desnick, Uyen Huynh-Do, Sima Canaan-Kühl, Frédéric Barbey

Transplantation· November 2018

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Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
François-Guillaume Debray, Katarina Damjanovic, Robin Rosset, Lauréane Mittaz-Crettol, Clothilde Roux, Frédéric Barbey

Am J Clin Nutr· August 2018

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Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
Pierre Monney, Salah Dine Qanadli, Steven Hajdu, Christel Tran, Juerg Schwitter, Frédéric Barbey

Swiss Med Wkly· July 2018

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Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Christel Tran, Frederic Barbey, Romain Lazor, Luisa Bonafé

Respiration· May 2018

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Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.
Daniel P Franzen, Albina Nowak, Sarah R Haile, Dominique Mottet, Marco Bonani, Frederic Barbey

PLoS One· September 2017

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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Pascaline Gaildrat, Said Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, Frederic Barbey

Mol Genet Genomic Med· July 2017

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[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].
Christel Tran, Jacques Serratrice, Jean-Marc Nuoffer, Andre Schaller, Bernard Favrat, Frederic Barbey

Rev Med Suisse· January 2017

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The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy.
Christian Schmied, Albina Nowak, Christiane Gruner, Eric Olinger, Huguette Debaix, Frédéric Barbey

Heart· August 2016

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Fabry in the older patient: Clinical consequences and possibilities for treatment.
Olivier Lidove, Frédéric Barbey, Dau-Ming Niu, Eva Brand, Kathleen Nicholls

Mol Genet Metab· August 2016

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