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- Frederic Barbey
Frederic Barbey
Frederic BARBEY, PD et MER1
Médecin adjoint
- Responsable clinique de la consultation de la maladie de Fabry
- Responsable clinique consultation et ateliers pour patient-e-s atteint-e-s du syndrome d’Ehlers-Danlos hypermobile
- Spécialiste FMH en médecine interne et néphrologie (maladies rénales génétiques)
- Diplôme interuniversitaire «maladies héréditaires métaboliques», Université Paris Descartes
- Diplôme universitaire «lithiase urinaire», Université Paris XI
- Président de la SFFD (Swiss Foundation of Fabry Disease)
- Membre fondateur de l’AIRG-Suisse: association pour l’information et la recherche sur les maladies rénales génétiques
Selected publications
Hypertrophie ventriculaire gauche isolée: et si c’était une maladie de Fabry?
F Barbey, O Dormond, V Monzambani, G Barbey, M Namdar, P Monney
Rev Med Suisse. 2020;16: 1886-1890
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
JP Oliveira, A Nowak, F Barbey, M Torres, JP Nunes, F Teixeira-E-Costa, F Carvalho, S Sampaio, I Tavares, O Pereira, AL Soares, C Carmona, MT Cardoso, IE Jurca-Simina, M Spada, S Ferreira, DP Germain
Eur J Med Genet. 2020; 63: 103703
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort
A Nowak, U Huynh-Do, PA Krayenbuehl, F Beuschlein, R Schiffmann, F Barbey
J Inherit Metab Dis. 2020; 43: 326-333
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease
F Barbey, O Lidove, O Dormond
Clin Genet. 2019; 95: 627-628
Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.
Franzen DP, Nowak A, Haile SR, Mottet D, Bonani M, Dormond O, Kohler M, Krayenbuehl PA, Barbey F
PLoS One. 2017;12(7):e0180437
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Tran C, Barbey F, Lazor R, Bonafé L
Respiration. 2017;94(1):2-13
The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy.
Schmied C, Nowak A, Gruner C, Olinger E, Debaix H, Brauchlin A, Frank M, Reidt S, Monney P, Barbey F, Shah D, Namdar M
Heart. 2016 Aug 15;102(16):1309-14
Fabry in the older patient: Clinical consequences and possibilities for treatment.
Lidove O, Barbey F, Niu DM, Brand E, Nicholls K, Bizjajeva S, Hughes DA
Mol Genet Metab. 2016 Aug;118(4):319-25
[Treatment of Fabry disease: Successes, failures, and expectations].
Lidove O, Barbey F, Joly D
Nephrol Ther. 2016 Apr;12 Suppl 1:S105-13
Thoracic aortic dilation/aneurysm in Fabry disease.
Dormond O, Barbey F
Am J Med. 2013 Dec;126(12):e23
Pulmonary involvement in Fabry disease: overview and perspectives.
Franzen D, Krayenbuehl PA, Lidove O, Aubert JD, Barbey F
Eur J Intern Med. 2013 Dec;24(8):707-13
Autophagosome maturation is impaired in Fabry disease.
Chévrier M, Brakch N, Céline L, Genty D, Ramdani Y, Moll S, Djavaheri-Mergny M, Brasse-Lagnel C, Annie Laquerrière AL, Barbey F, Bekri S
Autophagy. 2010 Jul;6(5):589-99
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG, all members of the Intern
Nephrol Dial Transplant. 2010 Jul;25(7):2168-77
Aortic remodelling in Fabry disease.
Barbey F, Qanadli SD, Juli C, Brakch N, Palacek T, Rizzo E, Jeanrenaud X, Eckhardt B, Linhart A
Eur Heart J. 2010 Feb;31(3):347-53
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease.
Brakch N, Dormond O, Bekri S, Golshayan D, Correvon M, Mazzolai L, Steinmann B, Barbey F
Eur Heart J. 2010 Jan;31(1):67-76
Cystatin C as a marker of early changes of renal function in Fabry nephropathy.
Feriozzi S, Germain DP, Di Vito R, Legrand A, Ricci R, Barbey F
J Nephrol. 2007 Jul-Aug;20(4):437-43
Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.
Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V, Jaussaud R, Papo T
Int J Clin Pract. 2007 Feb;61(2):293-302
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.
Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F
Cardiovasc Hematol Agents Med Chem. 2006 Oct;4(4):289-97
Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey.
Lidove O, Ramaswami U, Jaussaud R, Barbey F, Maisonobe T, Caillaud C, Beck M, Sunder-Plassmann G, Linhart A, Mehta A, FOS European investigators.
Int J Clin Pract. 2006 Sep;60(9):1053-9
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.
Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S, Steinmann B, Burnier M, Palecek T, Bultas J, Hayoz D
Arterioscler Thromb Vasc Biol. 2006 Apr;26(4):839-44
Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease.
Barbey F, Brakch N, Linhart A, Jeanrenaud X, Palecek T, Bultas J, Burnier M, Hayoz D
Acta Paediatr Suppl. 2006 Apr;95(451):63-8
Pulmonary involvement in Fabry disease
Aubert JD, Barbey F, Mehta A, Beck M, Sunder-Plassmann G
. 2006
Safety of enzyme replacement therapy
Barbey F, Livio F, Mehta A, Beck M, Sunder-Plassmann G
. 2006
[Fabry disease in adulthood: clinical aspects and therapeutic progress].
Lidove O, Joly D, Barbey F, Blétry O, Grünfeld JP
Rev Med Interne. 2001 Dec;22 Suppl 3:384s-392s
Heterozygotes with Fabry's disease.
Grünfeld JP, Lidove O, Barbey F
Contrib Nephrol. 2001;(136):208-10
Renal disease in Fabry patients.
Grünfeld JP, Lidove O, Joly D, Barbey F
J Inherit Metab Dis. 2001;24 Suppl 2:71-4; discussion 65
Service d'immunologie et allergie
BH10-527
Rue du Bugnon 46
1011 Lausanne
+41 21 314 0790
Service d'immunologie et allergie
BH10-527
Rue du Bugnon 46
1011 Lausanne
+41 21 314 0790