Publications by authors named "Roser Torra"

88Publications

Recommendations for the management of renal involvement in the tuberous sclerosis complex.

Nefrologia 2020 Mar - Apr;40(2):142-151. Epub 2019 Nov 10.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, IIB Sant Pau, Universitat Autónoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.nefro.2019.07.002DOI Listing
November 2019

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.

Clin Kidney J 2019 Aug 1;12(4):488-493. Epub 2019 Aug 1.

Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain.

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http://dx.doi.org/10.1093/ckj/sfz103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6671427PMC
August 2019

New therapeutic options for Alport syndrome.

Nephrol Dial Transplant 2019 08;34(8):1272-1279

Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1093/ndt/gfz131DOI Listing
August 2019

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

BMC Nephrol 2019 04 11;20(1):126. Epub 2019 Apr 11.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.

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https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882
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http://dx.doi.org/10.1186/s12882-019-1317-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458604PMC
April 2019

Podocyturia: why it may have added value in rare diseases.

Clin Kidney J 2019 Feb 5;12(1):49-52. Epub 2018 Oct 5.

IIS-Fundacion Jimenez Diaz, School of Medicine, Universidad Autonoma de Madrid; Fundacion Renal Iñigo Alvarez de Toledo-IRSIN and REDINREN, Madrid, Spain.

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http://dx.doi.org/10.1093/ckj/sfy081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407136PMC
February 2019

Recent advances in the clinical management of autosomal dominant polycystic kidney disease.

Authors:
Roser Torra

F1000Res 2019 29;8. Epub 2019 Jan 29.

Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08025, Spain.

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http://dx.doi.org/10.12688/f1000research.17109.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352922PMC
June 2020

Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy.

Med Clin (Barc) 2019 07 15;153(2):47-55. Epub 2019 Jan 15.

Nephrology Department, Fundación Puigvert, RedInRen, IIB Sant Pau, University Autónoma, Barcelona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183074
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http://dx.doi.org/10.1016/j.medcli.2018.10.039DOI Listing
July 2019

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Radiology 2019 03 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

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http://dx.doi.org/10.1148/radiol.2018181243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394734PMC
March 2019

Foreword.

Clin Kidney J 2018 Dec 17;11(Suppl 1):i1. Epub 2018 Dec 17.

Department of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Germany.

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http://dx.doi.org/10.1093/ckj/sfy110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295601PMC
December 2018

MYH9 Associated nephropathy.

Nefrologia 2019 Mar - Apr;39(2):133-140. Epub 2018 Nov 22.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Departamento de Medicina, Universidad Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.nefro.2018.08.008DOI Listing
January 2020

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.

Am J Nephrol 2018 22;48(4):308-317. Epub 2018 Oct 22.

Department of Nephrology, Inherited Renal Disorders, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000493325DOI Listing
January 2020

A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression.

Am J Nephrol 2018 2;48(1):67-78. Epub 2018 Aug 2.

Department of Nephrology, Inherited Renal Disorders, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000491022DOI Listing
December 2019

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Kidney Int 2018 08 22;94(2):363-371. Epub 2018 May 22.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.02.027DOI Listing
August 2018

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Am J Kidney Dis 2018 09 18;72(3):411-418. Epub 2018 May 18.

Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona; REDinREN, Instituto de Investigación Carlos III, Barcelona. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2018.03.019DOI Listing
September 2018

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

Stem Cell Res 2017 12 14;25:1-5. Epub 2017 Sep 14.

Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain; Center for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.08.021DOI Listing
December 2017

Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex.

Clin Kidney J 2017 Dec 11;10(6):728-737. Epub 2017 Sep 11.

Department of Urology, University Hospital 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1093/ckj/sfx094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716090PMC
December 2017

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

Stem Cell Res 2017 12 9;25:291-295. Epub 2017 Sep 9.

Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain; Center for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.08.019DOI Listing
December 2017

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Clin Kidney J 2017 Oct 19;10(5):586-593. Epub 2017 Jul 19.

Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1093/ckj/sfx051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622904PMC
October 2017

Erratum to «Recommendations for the multidisciplinary management of tuberous sclerosis complex» [MedClin(Barc)147(5) (2016) 211-216].

Med Clin (Barc) 2017 10;149(7):322

Enfermedades Renales Hereditarias, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00257753173065
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http://dx.doi.org/10.1016/j.medcli.2017.08.007DOI Listing
October 2017

Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients.

Medicine (Baltimore) 2016 Dec;95(49):e5595

aDepartment of Nephrology, Hospital del Mar, Barcelona bHospital del Mar Medical Research Institute, Barcelona cREDinREN (Red de Investigación Renal) dDepartment of Radiology, Hospital del Mar, Barcelona eDepartment of Radiology, Fundació Puigvert, Barcelona fDepartment of Cardiology, Hospital del Mar, Barcelona gDepartment of Statistics, Hospital del Mar Medical Research Institute, Barcelona hDepartment of Nephrology, Fundació Puigvert, Barcelona iUniversitat Autònoma de Barcelona, Instituto de Investigación Biomédica Sant Pau (IIB Sant Pau), Barcelona, Spain.

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http://dx.doi.org/10.1097/MD.0000000000005595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266054PMC
December 2016

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

Orphanet J Rare Dis 2016 Sep 26;11(1):128. Epub 2016 Sep 26.

Inherited Renal Diseases, Department of Nephrology, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autónoma de Barcelona, Cartagena, 340-350, 08025, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037621PMC
http://dx.doi.org/10.1186/s13023-016-0517-9DOI Listing
September 2016

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

Nefrologia 2016 Nov - Dec;36(6):616-630. Epub 2016 Aug 30.

Grupo de Trabajo multidisciplinar para el tratamiento de los pacientes con cistinosis y su transición desde las unidades pediátricas a las de adultos, Barcelona, España.

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http://dx.doi.org/10.1016/j.nefro.2016.05.012DOI Listing
April 2018

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Nefrologia 2017 Jan - Feb;37(1):87-92. Epub 2016 Aug 29.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.nefro.2016.04.007DOI Listing
April 2018

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

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http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

[Recommendations for the multidisciplinary management of tuberous sclerosis complex].

Med Clin (Barc) 2016 09 18;147(5):211-216. Epub 2016 May 18.

Enfermedades Renales Hereditarias, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2016.04.004DOI Listing
September 2016

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Nephrol Dial Transplant 2017 01;32(1):151-156

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1093/ndt/gfv453DOI Listing
January 2017

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

BMC Med Genet 2015 Jun 17;16:39. Epub 2015 Jun 17.

Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12881-015-0185-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631093PMC
June 2015

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Eur J Hum Genet 2015 Sep 19;23(9):1192-9. Epub 2014 Nov 19.

1] Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain [2] Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538209PMC
September 2015

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Mol Genet Genomic Med 2014 Sep 23;2(5):412-21. Epub 2014 May 23.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain ; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/mgg3.82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190876PMC
September 2014

Spanish guidelines for the management of autosomal dominant polycystic kidney disease.

Nephrol Dial Transplant 2014 Sep;29 Suppl 4:iv95-105

Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1093/ndt/gfu186DOI Listing
September 2014

Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.

Nephrol Dial Transplant 2014 Sep;29 Suppl 4:iv26-32

Institute of Physiology and Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland Division of Nephrology, University Hospital Zurich, Zurich, Switzerland.

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http://ndt.oxfordjournals.org/content/29/suppl_4/iv26.full.p
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http://ndt.oxfordjournals.org/cgi/doi/10.1093/ndt/gfu091
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http://dx.doi.org/10.1093/ndt/gfu091DOI Listing
September 2014

HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.

Clin J Am Soc Nephrol 2014 Feb 21;9(2):335-43. Epub 2013 Nov 21.

Molecular Biology Laboratory and, †Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Red de Investigación Renal, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.2215/CJN.05310513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913240PMC
February 2014

[Treatment of autosomal dominant polycystic kidney disease].

Authors:
Roser Torra

Med Clin (Barc) 2014 Jan 15;142(2):73-9. Epub 2013 Nov 15.

Enfermedades Renales Hereditarias, Fundación Puigvert, Institut d'Investigació Biomèdica Sant Pau, Universidad Autónoma de Barcelona, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2013.09.018DOI Listing
January 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Hum Mutat 2014 Feb 9;35(2):178-86. Epub 2013 Dec 9.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, Paris, France; Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.22485DOI Listing
February 2014

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

Pediatr Nephrol 2014 Feb 27;29(2):223-34. Epub 2013 Oct 27.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, C/Cartagena, 340-350, 08025, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00467-013-2657-7DOI Listing
February 2014

Hypertension in autosomal-dominant polycystic kidney disease (ADPKD).

Clin Kidney J 2013 Oct 24;6(5):457-63. Epub 2013 Apr 24.

Renal Unit and Hypertension , Fundació Puigvert , Barcelona , Spain ; Universitat Autònoma de Barcelona , Barcelona , Spain ; REDinREN, Instituto de Investigación Carlos III , Barcelona , Spain ; IIB Sant Pau , Barcelona , Spain.

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http://dx.doi.org/10.1093/ckj/sft031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438388PMC
October 2013

Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry.

BMC Nephrol 2013 Sep 5;14:186. Epub 2013 Sep 5.

Inherited Renal Diseases, Nephrology Department, Fundacio Puigvert, IIB Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1186/1471-2369-14-186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844422PMC
September 2013

Epidemiology of two large measles virus outbreaks in Catalonia: what a difference the month of administration of the first dose of vaccine makes.

Hum Vaccin Immunother 2013 Mar 9;9(3):675-80. Epub 2013 Jan 9.

Public Health Agency of Catalonia; Barcelona, Spain; CIBER Epidemiología y Salud Pública (CIBERESP); Carlos III Institute; Madrid, Spain; Department of Public Health; University of Barcelona; Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891728PMC
http://dx.doi.org/10.4161/hv.23265DOI Listing
March 2013

Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial.

Orphanet J Rare Dis 2012 Nov 11;7:87. Epub 2012 Nov 11.

Department of Nephrology, Inherited Renal Diseases, Fundación Puigvert, Universidad Autónoma de Barcelona, Cartagena 340-350, Barcelona, 08025, Spain.

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http://dx.doi.org/10.1186/1750-1172-7-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519505PMC
November 2012

Fabry disease: the many faces of a single disorder.

Clin Kidney J 2012 Oct;5(5):379-82

Renal Unit , IIS-Fundación Jiménez Díaz Universidad Autónoma de Madrid, FRIAT , Madrid , Spain.

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http://dx.doi.org/10.1093/ckj/sfs124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432429PMC
October 2012

Pandemic A/H1N1 influenza: transmission of the first cases in Spain.

Enferm Infecc Microbiol Clin 2012 Feb 13;30(2):60-3. Epub 2011 Sep 13.

Parc de Salut Mar-Universitat Pompeu Fabra-Public Health Agency of Barcelona, Spain.

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http://dx.doi.org/10.1016/j.eimc.2011.06.007DOI Listing
February 2012

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Clin J Am Soc Nephrol 2011 May 17;6(5):1139-48. Epub 2011 Mar 17.

Molecular Biology Laboratory, Fundació Puigvert, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.2215/CJN.05260610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087781PMC
May 2011

Epidemiological analysis of severe hospitalized 2009 pandemic influenza A (H1N1) cases in Catalonia, Spain.

Hum Vaccin 2011 Jan-Feb;7 Suppl:226-9. Epub 2011 Jan 1.

General Directorate of Public Health, Department of Health, Generalitat of Catalonia, Barcelona, Spain.

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http://dx.doi.org/10.4161/hv.7.0.14609DOI Listing
November 2011

[Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].

Med Clin (Barc) 2010 Sep 4;135(7):300-5. Epub 2010 Jun 4.

Unidad de Imagen Cardiovascular, Instituto Cardiovascular, Hospital Clínico San Carlos, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2009.11.044DOI Listing
September 2010

UGA hopping: a sport for nephrologists too?

Nephrol Dial Transplant 2010 Aug 25;25(8):2391-5. Epub 2010 May 25.

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http://dx.doi.org/10.1093/ndt/gfq301DOI Listing
August 2010

Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis.

Am J Kidney Dis 2009 Nov 25;54(5):871-80. Epub 2009 Sep 25.

Fisopatologia Renal, CIBBIM, Institut de Recerca, Hospital Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1053/j.ajkd.2009.07.011DOI Listing
November 2009

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.

Biologics 2008 Dec;2(4):823-43

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2727881PMC
http://dx.doi.org/10.2147/btt.s3770DOI Listing
December 2008

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

Nephrol Dial Transplant 2009 Oct 20;24(10):3089-96. Epub 2009 May 20.

Fundació Puigvert, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

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http://ndt.oxfordjournals.org/content/24/10/3089.full.pdf
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http://ndt.oxfordjournals.org/cgi/doi/10.1093/ndt/gfp229
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http://dx.doi.org/10.1093/ndt/gfp229DOI Listing
October 2009

Renal manifestations in Fabry disease and therapeutic options.

Authors:
Roser Torra

Kidney Int Suppl 2008 Dec(111):S29-32

Nephrology Department, Inherited Renal Disorders, Fundació Puigvert, Barcelona, Spain.

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http://dx.doi.org/10.1038/ki.2008.522DOI Listing
December 2008

Unified criteria for ultrasonographic diagnosis of ADPKD.

J Am Soc Nephrol 2009 Jan 22;20(1):205-12. Epub 2008 Oct 22.

Division of Nephrology, University of Toronto, 8N838, 585 University Avenue, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1681/ASN.2008050507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615723PMC
January 2009

Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease.

Clin J Am Soc Nephrol 2008 May 5;3(3):790-3. Epub 2008 Mar 5.

Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, Cartagena 340-350, 08025 Barcelona, Spain.

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http://dx.doi.org/10.2215/CJN.05311107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386699PMC
May 2008

Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1.

Nephrol Dial Transplant 2007 Jun 15;22(6):1567-77. Epub 2007 Feb 15.

Hereditary Renal Diseases, Nephrology Department, Fundació Puigvert, Cartagena 340-350, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1093/ndt/gfm036DOI Listing
June 2007

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.

Eur J Hum Genet 2005 Sep;13(9):1040-6

Laboratori de Biologia Molecular, Fundació Puigvert, Universitat Autònoma Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.ejhg.5201452DOI Listing
September 2005

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure.

Nephrol Dial Transplant 2004 Oct 27;19(10):2429-32. Epub 2004 Jul 27.

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http://dx.doi.org/10.1093/ndt/gfh435DOI Listing
October 2004

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

Am J Kidney Dis 2003 Nov;42(5):952-9

Laboratory Department, Molecular Biology Laboratory, Fundació Puigvert, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ajkd.2003.08.002DOI Listing
November 2003