Fabry disease and COVID-19: international expert recommendations for management based on real-world experience von Laney, Dawn A., Germain, Dominique P., Oliveira, Joao Paulo, Burlina, Alessandro P., Horacio Cabrera, Gustavo, Hong, Geu-Ru, Hopkin, Robert J., Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernan, Wilcox, William R., Manuel Politei, Juan, Ortiz, Alberto

Volltext

Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria von Tøndel, Camilla, Kanai, Takahiro, Larsen, Kristin Kampevold, Ito, Shuichi, Politei, Juan Manuel, Svarstad, Einar

Volltext

Update on the treatment of Fabry's disease: pathophysiological concepts von Politei, Juan Manuel

Volltext

Utility of enzyme replacement therapy in Fabry disease von Politei, Juan Manuel, Dubrovsky, Alberto

Volltext

FDrisk as an accessible and user-friendly tool aimed at promoting earlier diagnosis: a complement to clinical suspicion in Fabry disease von Margaria, Magali, Margaria, Roberto, Stegmann, Jorgelina, Politei, Juan Manuel

Volltext

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 com... von 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, Aleš, Mauer, Michael, Oliveira, João P., Weidemann, Frank, Germain, Dominique P.

Volltext

Long term enzyme replacement therapy for Fabry disease: effectiveness on heart, kidney and brain von Cabrera, Gustavo H, Politei, Juan Manuel

Volltext

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model von Masotti, Martina, Delprete, Cecilia, Dothel, Giovanni, Donadio, Vincenzo, Rimondini, Roberto, Politei, Juan Manuel, Liguori, Rocco, Caprini, Marco

Volltext

Screening of Fabry disease in male hemodialysis patients: Prevalence and mutations found in Argentina von Frabasil, Joaquin, Sokn, Silvia, Durand, Consuelo, Politei, Juan Manuel, Schenone, Andrea B.

Volltext

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease von Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey

Volltext

Enzyme replacement therapy in Fabry Disease: the importance of dose von Juan Manuel Politei, Andrea B. Schenone, Consuelo Durand, Alberto Ortiz

Volltext

Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria von Tøndel, Camilla, Kanai, Takahiro, Ito, Suichi, Larsen, Kirstin K., Politei, Juan Manuel, Svarstad, Einar, Warnock, David G.

Volltext

Actualización en el tratamiento de la enfermedad de Fabry: conceptos fisiopatológicos von Politei, Juan Manuel

Volltext

Stroke in Fabry disease. More than a simple stenosis von Politei, Juan Manuel

Volltext

Lidocaína intravenosa como tratamiento de las crisis dolorosas de la enfermedad de Fabry von Politei, Juan Manuel

Volltext

Fabry disease: the importance of the enzyme replacement therapy (TRE), treating quickly and efficiently von Juan Manuel Politei, Andrea B. Schenone, Norberto Antongiovanni, Ana María Cusumano, Gustavo Cabrera, Marina Szlago

Volltext

Utilidad del tratamiento de sustitución enzimática en la enfermedad de Fabry von Politei, Juan Manuel, Dubrovsky, Alberto

Volltext

Gene symbol: GLA. Disease: Fabry disease von Serebrinsky, Graciela Patricia, Pascucelli, Verónica, Politei, Juan Manuel

Volltext

Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America von Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, Jacobo Villalobos Jacobo

Volltext

TERAPIA DE REEMPLAZO ENZIMÁTICO EN LA ENFERMEDAD DE FABRY: LA DOSIS ES IMPORTANTE von Politei, Juan Manuel, Schenone, Andrea B, Durand, Consuelo, Ortiz, Alberto

Volltext