Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Wanner, Christoph; Ortiz, Alberto; Wilcox, William R; Hopkin, Robert J; Johnson, Jack; Ponce, Elvira; Ebels, Johan T; Batista, Julie L; Maski, Manish; Politei, Juan M; Martins, Ana Maria; Banikazemi, Maryam; Linhart, Ales; Mauer, Michael; Oliveira, João P; Weidemann, Frank; Germain, Dominique P.

Mol Genet Metab ; 139(3): 107603, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37236007

2.

Familial gain-of-function Na_v1.9 mutation in a painful channelopathy.

Han, Chongyang; Yang, Yang; Te Morsche, Rene H; Drenth, Joost P H; Politei, Juan M; Waxman, Stephen G; Dib-Hajj, Sulayman D.

J Neurol Neurosurg Psychiatry ; 88(3): 233-240, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27503742

3.

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel.

Burlina, Alessandro P; Sims, Katherine B; Politei, Juan M; Bennett, Gary J; Baron, Ralf; Sommer, Claudia; Møller, Anette Torvin; Hilz, Max J.

BMC Neurol ; 11: 61, 2011 May 27.

Artigo em Inglês | MEDLINE | ID: mdl-21619592

4.

Treatment with agalsidase beta during pregnancy in Fabry disease.

Politei, Juan M.

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

Artigo em Inglês | MEDLINE | ID: mdl-20492401

5.

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status.

Martins, Ana M; Cabrera, Gustavo; Molt, Fernando; Suárez-Obando, Fernando; Valdés, Régulo A; Varas, Carmen; Yang, Meng; Politei, Juan M.

JIMD Rep ; 49(1): 107-117, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-31497488

6.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker, Christoffer; Alkuraya, Fowzan S; Baynam, Gareth; Bernier, Raphael A; Bernier, Francois P J; Boulanger, Vanessa; Brudno, Michael; Brunner, Han G; Clayton-Smith, Jill; Cogné, Benjamin; Dawkins, Hugh J S; deVries, Bert B A; Douzgou, Sofia; Dudding-Byth, Tracy; Eichler, Evan E; Ferlaino, Michael; Fieggen, Karen; Firth, Helen V; FitzPatrick, David R; Gration, Dylan; Groza, Tudor; Haendel, Melissa; Hallowell, Nina; Hamosh, Ada; Hehir-Kwa, Jayne; Hitz, Marc-Phillip; Hughes, Mark; Kini, Usha; Kleefstra, Tjitske; Kooy, R Frank; Krawitz, Peter; Küry, Sébastien; Lees, Melissa; Lyon, Gholson J; Lyonnet, Stanislas; Marcadier, Julien L; Meyn, Stephen; Moslerová, Veronika; Politei, Juan M; Poulton, Cathryn C; Raymond, F Lucy; Reijnders, Margot R F; Robinson, Peter N; Romano, Corrado; Rose, Catherine M; Sainsbury, David C G; Schofield, Lyn; Sutton, Vernon R; Turnovec, Marek; Van Dijck, Anke.

Front Genet ; 10: 611, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31417602

7.

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America.

Politei, Juan M; Gordillo-González, Gisel; Guelbert, Norberto B; de Souza, Carolina F Moura; Lourenço, Charles M; Solano, Martha L; Junqueira, Mariana M; Magalhães, Tatiana S P C; Martins, Ana M.

J Pain Symptom Manage ; 56(1): 146-152, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29649527

8.

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

Thurberg, Beth L; Germain, Dominique P; Perretta, Fernando; Jurca-Simina, Iulia E; Politei, Juan M.

Mol Genet Metab Rep ; 11: 75-80, 2017 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-28649509

9.

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

Politei, Juan M; Capizzano, Aristides A.

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

Artigo em Inglês | MEDLINE | ID: mdl-16534447

10.

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

Rost, Natalia S; Cloonan, Lisa; Kanakis, Allison S; Fitzpatrick, Kaitlin M; Azzariti, Danielle R; Clarke, Virginia; Lourenco, Charles M; Germain, Dominique P; Politei, Juan M; Homola, György A; Sommer, Claudia; Üçeyler, Nurcan; Sims, Katherine B.

Neurology ; 86(20): 1880-6, 2016 May 17.

Artigo em Inglês | MEDLINE | ID: mdl-27164662

11.

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Politei, Juan M; Bouhassira, Didier; Germain, Dominique P; Goizet, Cyril; Guerrero-Sola, Antonio; Hilz, Max J; Hutton, Elspeth J; Karaa, Amel; Liguori, Rocco; Üçeyler, Nurcan; Zeltzer, Lonnie K; Burlina, Alessandro.

CNS Neurosci Ther ; 22(7): 568-76, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-27297686

12.

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

Thurberg, Beth L; Politei, Juan M.

Hum Pathol ; 43(4): 610-4, 2012 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-22078290

13.

Small Fiber Neuropathy in Fabry Disease: a Review of Pathophysiology and Treatment

Politei, Juan M.; Durand, Consuelo; Schenone, Andrea B..

J. inborn errors metab. screen ; 4: e160002, 2016.

Artigo em Inglês | LILACS-Express | ID: biblio-1090910

14.

Ecografía renal en 25 pacientes con enfermedad de Fabry: incidencia de patología quística renal / Renal echography in 25 Fabry disease patients: cystic renal pathology incidence

Politei, Juan M; Pereyra, Daniel; Perez-Ballester, Gustavo; Amartino, Hernán; Valdez, Rita; Cabrera, Gustavo.

Rev. nefrol. diál. traspl ; 28(1): 13-16, abr. 2008. tab

Artigo em Espanhol | LILACS | ID: lil-505878

15.

HSV encephalitis with posterior localization.

Politei, Juan M.

Neurology ; 62(9): 1655; author reply 1655, 2004 May 11.

Artigo em Inglês | MEDLINE | ID: mdl-15136715

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