Frederic Barbey

Frederic Barbey

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Frederic Barbey

Frederic Barbey

Publications by authors named "Frederic Barbey"

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41Publications

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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.

J Inherit Metab Dis 2019 Aug 26. Epub 2019 Aug 26.

Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/jimd.12167DOI Listing
August 2019

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Clin Genet 2019 May 15;95(5):627-628. Epub 2019 Jan 15.

Department of Visceral Surgery, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/cge.13497
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http://dx.doi.org/10.1111/cge.13497DOI Listing
May 2019

Long-term Outcomes of Kidney Transplantation in Fabry Disease.

Transplantation 2018 Nov;102(11):1924-1933

Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1097/TP.0000000000002252DOI Listing
November 2018

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.

Swiss Med Wkly 2017 9;147:w14517. Epub 2017 Nov 9.

Service of Genetic Medicine, Lausanne University Hospital, Switzerland.

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http://dx.doi.org/10.4414/smw.2017.14517DOI Listing
July 2018

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Respiration 2017 16;94(1):2-13. Epub 2017 May 16.

Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1159/000475762DOI Listing
May 2018

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Rev Med Suisse 2017 Jan;13(546):159-163

Centre des maladies moléculaires, Service de génétique médicale, CHUV, 1011 Lausanne.

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January 2017

The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy.

Heart 2016 08 7;102(16):1309-14. Epub 2016 Apr 7.

Service de Cardiologie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.

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http://dx.doi.org/10.1136/heartjnl-2015-308897DOI Listing
August 2016

Fabry in the older patient: Clinical consequences and possibilities for treatment.

Mol Genet Metab 2016 08 14;118(4):319-25. Epub 2016 May 14.

Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.009DOI Listing
August 2016

[Treatment of Fabry disease: Successes, failures, and expectations].

Nephrol Ther 2016 Apr 8;12 Suppl 1:S105-13. Epub 2016 Mar 8.

Service de néphrologie, hôpital Necker Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Faculté de médecine, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France; Inserm U1151, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.nephro.2016.02.003DOI Listing
April 2016

Pulmonary involvement in Fabry disease: overview and perspectives.

Eur J Intern Med 2013 Dec 30;24(8):707-13. Epub 2013 May 30.

Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland; Division of Pneumology, University Hospital Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2013.05.003DOI Listing
December 2013

Thoracic aortic dilation/aneurysm in Fabry disease.

Am J Med 2013 Dec;126(12):e23

Department of Visceral Surgery, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.amjmed.2013.07.029DOI Listing
December 2013

Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome.

Ren Fail 2013 Jul 5;35(6):866-8. Epub 2013 Jun 5.

Transplantation Center, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.3109/0886022X.2013.801300DOI Listing
July 2013

MR imaging as a specific diagnostic tool for bilateral microcysts in chronic lithium nephropathy.

Kidney Int 2012 Mar;81(6):601

Transplantation Center, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/ki.2011.449DOI Listing
March 2012

Autophagosome maturation is impaired in Fabry disease.

Autophagy 2010 Jul 1;6(5):589-99. Epub 2010 Jul 1.

Laboratoire de Biochimie Médicale, Rouen University Hospital and EA 4309, University of Rouen, Rouen, France.

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https://www.tandfonline.com/doi/full/10.4161/auto.6.5.11943
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http://dx.doi.org/10.4161/auto.6.5.11943DOI Listing
July 2010

[Recent insights into polycystic kidney disease].

Rev Med Suisse 2010 Mar;6(238):454-9

Service de néphrologie, Département de médecine, CHUV, Lausanne.

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March 2010

Aortic remodelling in Fabry disease.

Eur Heart J 2010 Feb 21;31(3):347-53. Epub 2009 Oct 21.

Department of Transplantation, Faculty of Medicine and Biology, University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1093/eurheartj/ehp426DOI Listing
February 2010

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease.

Eur Heart J 2010 Jan 22;31(1):67-76. Epub 2009 Sep 22.

Service of Angiology and Vascular Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, 5 Rue Pierre Decker, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1093/eurheartj/ehp387DOI Listing
January 2010

Fabry nephropathy: 5 years of enzyme replacement therapy-a short review.

NDT Plus 2008 Feb 19;1(1):11-19. Epub 2007 Dec 19.

Department of Nephrology, University of Mainz, Mainz, Germany.

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http://dx.doi.org/10.1093/ndtplus/sfm022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375229PMC
February 2008

Cystatin C as a marker of early changes of renal function in Fabry nephropathy.

J Nephrol 2007 Jul-Aug;20(4):437-43

Nephrology and Dialysis Unit, Ospedale Belcolle, Viterbo, Italy.

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January 2008

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.

Cardiovasc Hematol Agents Med Chem 2006 Oct;4(4):289-97

Department of Biochemistry, Hôpital Charles Nicolle, 1 Rue de Germont, 76031 Rouen cedex, France.

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http://dx.doi.org/10.2174/187152506778520718DOI Listing
October 2006

[Nephrolithiasis-induced ESRD: frequency, causes and prevention].

Nephrol Ther 2005 Nov 3;1(5):301-10. Epub 2005 Oct 3.

Hôpital Necker, 149, rue de Sèvres, 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.nephro.2005.08.001DOI Listing
November 2005

ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention.

Am J Kidney Dis 2004 Nov;44(5):799-805

Department of Nephrology; Necker Hospital, Paris, France.

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November 2004

[Urinary calculi epidemiology in children].

Rev Med Suisse Romande 2004 Aug;124(8):433-7

Département de pédiatrie, Unité de néphrologie pédiatrique, CHUV, Lausanne.

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August 2004

[Lithogenesis].

Rev Med Suisse Romande 2004 Aug;124(8):439-44

Service de Biochimie A, Hôpital Necker-Enfants Malades, Paris, France.

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August 2004

[Value of the study of crystalluria in clinical practice].

Rev Med Suisse Romande 2004 Aug;124(8):455-9

Service de Biochimie A, Hôpital Necker-Enfants Malades, Paris, France.

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August 2004

[Medical treatment of urinary lithiasis].

Rev Med Suisse Romande 2004 Aug;124(8):461-4

Département de pédiatrie, Unité de néphrologie pédiatrique, Lausanne.

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August 2004

[Infective lithiasis].

Rev Med Suisse Romande 2004 Aug;124(8):465-9

Division de Néphrologie, CHUV, Lausanne.

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August 2004

[Cysteine lithiasis].

Rev Med Suisse Romande 2004 Aug;124(8):471-5

Division de Néphrologie, CHUV, Lausanne.

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August 2004

[Massive hyperoxaluria].

Rev Med Suisse Romande 2004 Aug;124(8):477-82

Division de Néphrologie, CHUV, Lausanne.

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August 2004

[Radiologic and biochemical studies of urinary lithiasis].

Rev Med Suisse Romande 2004 Aug;124(8):491-6

Département de pédiatrie, Unité de néphrologie pédiatrique, CHUV, Lausanne.

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August 2004

A pregnant woman with de novo polyuria-polydipsia and elevated liver enzymes.

Nephrol Dial Transplant 2003 Oct;18(10):2193-6

Department of Nephrology, University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1093/ndt/gfg152DOI Listing
October 2003

Cystine crystal volume determination: a useful tool in the management of cystinuric patients.

Urol Res 2003 Jul 14;31(3):207-11. Epub 2003 May 14.

Laboratoire de Biochimie A, Groupe Hospitalier Necker-Enfants Malades, AP-HP, 149, Rue de Sèvres, 75743 Paris Cedex 15, France.

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http://link.springer.com/content/pdf/10.1007/s00240-003-0319
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http://link.springer.com/10.1007/s00240-003-0319-0
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http://dx.doi.org/10.1007/s00240-003-0319-0DOI Listing
July 2003

[Fabry disease: diagnostic due of substitutive enzyme-therapy].

Rev Med Suisse Romande 2002 Sep;122(9):449-53

Division de Néphrologie CHUV, Av du Bugnon 17, 1011 Lausanne.

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September 2002