Juan Politei

Juan Politei

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Juan Politei

Juan Politei

Publications by authors named "Juan Politei"

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Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.

Adv Ther 2019 Oct 21;36(10):2866-2880. Epub 2019 Aug 21.

Baylor Scott & White Research Institute, Dallas, TX, USA.

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http://dx.doi.org/10.1007/s12325-019-01061-xDOI Listing
October 2019

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model.

Neurogastroenterol Motil 2019 03 4;31(3):e13529. Epub 2019 Jan 4.

Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/nmo.13529DOI Listing
March 2019

Non-specific gastrointestinal features: Could it be Fabry disease?

Dig Liver Dis 2018 May 1;50(5):429-437. Epub 2018 Mar 1.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15908658183020
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http://dx.doi.org/10.1016/j.dld.2018.02.011DOI Listing
May 2018

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.

Mol Genet Metab Rep 2017 Jun 4;11:65-68. Epub 2017 May 4.

GADYTEF (Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Fabry), Argentina.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163013
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http://dx.doi.org/10.1016/j.ymgmr.2017.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423300PMC
June 2017

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

Mol Genet Metab Rep 2017 Jun 1;11:75-80. Epub 2016 Oct 1.

Neurology Department, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.ymgmr.2016.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470937PMC
June 2017

Familial gain-of-function Na1.9 mutation in a painful channelopathy.

J Neurol Neurosurg Psychiatry 2017 03 8;88(3):233-240. Epub 2016 Aug 8.

Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2016-313804
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http://dx.doi.org/10.1136/jnnp-2016-313804DOI Listing
March 2017

When arthralgia is not arthritis.

Eur J Rheumatol 2016 Dec 5;3(4):182-184. Epub 2016 Apr 5.

Department of Neurology, Division, of Neurometabolism, Foundation for Study of Neurometabolic Diseases, (FESEN), Buenos Aires, Argentina.

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http://dx.doi.org/10.5152/eurjrheum.2016.15073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283568PMC
December 2016

Determinants of white matter hyperintensity burden in patients with Fabry disease.

Neurology 2016 May 20;86(20):1880-6. Epub 2016 Apr 20.

From the J. Philip Kistler Stroke Research Center, Department of Neurology (N.S.R., L.C., A.S.K., K.M.F.), and the Center for Human Genetic Research, Department of Neurology (N.S.R., D.R.A., V.C., K.B.S.), Massachusetts General Hospital, Boston; Neurogenetics Unit (C.M.L.), School of Medicine of Riberirao Preto, University of São Paulo, Brazil; Division of Medical Genetics (D.P.G.), University of Versailles-St Quentin en Yvelines Paris-Saclay University, France; Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN) (J.M.P.), Buenos Aires, Argentina; and Departments of Neuroradiology (G.A.H.) and Neurology (C.S., N.Ü.), Fabry Center for Interdisciplinary Therapy (FAZIT) (C.S., N.Ü.), University of Würzburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873685PMC
May 2016

[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].

Arch Argent Pediatr 2015 Aug;113(4):359-64

Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires.

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http://www.sap.org.ar/docs/publicaciones/archivosarg/2015/v1
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http://dx.doi.org/10.5546/aap.2015.359DOI Listing
August 2015

Cerebrovascular involvement in Fabry disease: current status of knowledge.

Stroke 2015 Jan 9;46(1):302-13. Epub 2014 Dec 9.

From the Department of Neurology, New York University School of Medicine (E.K.); Department of Psychiatry and Psychotherapy, University Medical Center Mainz, Mainz, Germany (A.F.); Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany (M.J.H.); Center for Human Genetic Research and Neurology Department (K.S.), Division of Neuroradiology, Department of Radiology (P.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Stroke Unit, Department of Neurosciences, Monash Health and Stroke and Aging Research Group, Department of Medicine, Monash University, Australia (T.G.P.); Department of Neurology, Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina (J.P.); Department of Neuroradiology, University of Salerno, Salerno, Italy (R.M.); and Neurological Unit, Department of Internal Medicine, St Bassiano Hospital, Bassano del Grappa, Italy (A.B.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006283DOI Listing
January 2015

[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].

Arch Argent Pediatr 2014 Jun;112(3):258-62

Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.

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http://www.sap.org.ar/docs/publicaciones/archivosarg/2014/v1
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http://dx.doi.org/10.5546/aap.2014.258DOI Listing
June 2014

Fibrosis: a key feature of Fabry disease with potential therapeutic implications.

Orphanet J Rare Dis 2013 Aug 6;8:116. Epub 2013 Aug 6.

Department of Medicine, Divisions of Cardiology and Nephrology, The Comprehensive Heart Failure Center at the University of Würzburg.

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http://dx.doi.org/10.1186/1750-1172-8-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750297PMC
August 2013

Utility of rare disease registries in latin america.

JIMD Rep 2011 25;1:111-5. Epub 2011 Jun 25.

Fabry Registry Brazil, Latin America Fabry, Gaucher, MPS I and Pompe Registries, Universidade Federal de São Paulo, São Paulo, Brazil,

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http://dx.doi.org/10.1007/8904_2011_25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509820PMC
February 2013

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.

Hum Pathol 2012 Apr 10;43(4):610-4. Epub 2011 Nov 10.

Department of Pathology, Genzyme Corporation, Framingham, MA 01701-9322, USA.

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http://dx.doi.org/10.1016/j.humpath.2011.07.020DOI Listing
April 2012

[Update on the treatment of Fabry's disease: pathophysiological concepts].

Rev Neurol 2010 Nov;51(9):561-70

Sección de Enfermedades Neuromusculares, Departamento de Neurología, Hospital General de Agudos Juan A. Fernández, Cerviño, Buenos Aires, Argentina.

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November 2010

[Utility of enzyme replacement therapy in Fabry disease].

Med Clin (Barc) 2010 Apr 6;134(9):402-5. Epub 2010 Feb 6.

Sección de Enfermedades Neuromusculares, Departamento de Neurología, Instituto de Neurociencias de la Fundación Favaloro, Hospital Juan Fernández, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.medcli.2009.07.053DOI Listing
April 2010

Treatment with agalsidase beta during pregnancy in Fabry disease.

Authors:
Juan M Politei

J Obstet Gynaecol Res 2010 Apr;36(2):428-9

Neurology and Lysosomal Disorders Service, Juan A. Fernandez Hospital, Buenos Aires, Argentina.

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http://doi.wiley.com/10.1111/j.1447-0756.2009.01164.x
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http://dx.doi.org/10.1111/j.1447-0756.2009.01164.xDOI Listing
April 2010

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.

Stroke 2009 Mar 15;40(3):788-94. Epub 2009 Jan 15.

Center for Human Genetic Research and Neurology Department, Massachusetts General Hospital and Harvard Medical School, Boston, Mass. 02114, USA.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.108.526293
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http://dx.doi.org/10.1161/STROKEAHA.108.526293DOI Listing
March 2009

[Stroke in Fabry disease. More than a simple stenosis].

Medicina (B Aires) 2006 ;66(5):467-71

Servicio de Neurología, Hospital Juan A. Fernández, Buenos Aires, Argentina.

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August 2007

Gene symbol: GLA. Disease: Fabry disease.

Hum Genet 2006 Apr;119(3):361

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April 2006

Magnetic resonance image findings in 5 young patients with Fabry disease.

Neurologist 2006 Mar;12(2):103-5

Neurology Service, Juan A. Fernandez Hospital, Buenos Aires, Argentina.

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https://insights.ovid.com/crossref?an=00127893-200603000-000
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http://dx.doi.org/10.1097/01.nrl.0000187495.16824.a6DOI Listing
March 2006

HSV encephalitis with posterior localization.

Authors:
Juan M Politei

Neurology 2004 May;62(9):1655; author reply 1655

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http://dx.doi.org/10.1212/wnl.62.9.1655DOI Listing
May 2004