Enfermedad de Fabry en Argentina

por Rozenfeld, Paula Adriana
Publicado 2016

High incidence of autoantibodies in Fabry disease patients

por Martinez, P., Aggio, M., Rozenfeld, Paula Adriana
Publicado 2007

The role of tubular cells in the pathogenesis of Fabry nephropathy

por Rozenfeld, Paula Adriana, Feriozzi, Sandro, Braun,Fabian
Publicado 2024

New mutation in Fabry disease: c.448delG, first phenotypic description

por Calabrese, Esteban, Rodriguez Botta, Guillermo, Rozenfeld, Paula Adriana
Publicado 2021

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings

por Rozenfeld, Paula Adriana, Ceci, Romina, Roa, Norma, Kisinovsky, Isaac
Publicado 2015

A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina

por Oliveri, Beatriz, González, Diana, Quiroga, Felisa, Silva, Claudio, Rozenfeld, Paula Adriana
Publicado 2019

Detection and identification of a soy protein component that cross-reacts with caseins from cow's milk

por Rozenfeld, Paula Adriana, Docena, Guillermo Horacio, Añón, María Cristina, Fossati, Carlos Alberto
Publicado 2002

CRISPR/Cas9 Editing for Gaucher Disease Modelling

por Pavan, Eleonora, Ormazabal, Maximiliano Emanuel, Peruzzo, Paolo, Vaena, Emilio, Rozenfeld, Paula Adriana, Dardis, Andrea
Publicado 2020

Fabry pedigree analysis: A successful program for targeted genetic approach

por Rozenfeld, Paula Adriana, Masllorens, Francisca M., Roa, Norma, Rodriguez, Fernanda, Bonnano, Mariela, Yvorra, Carolina, Ceci, Romina
Publicado 2019

Unraveling the mystery of Gaucher bone density pathophysiology

por Rozenfeld, Paula Adriana, Crivaro, Andrea Natalia, Ormazabal, Maximiliano Emanuel, Mucci, Juan Marcos, Bondar, Constanza María, Delpino, María Victoria
Publicado 2021

Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

por Ceci, Romina, De Francesco, Pablo Nicolás, Mucci, Juan Marcos, Cancelarich, Natalia Lorena, Fossati, Carlos Alberto, Rozenfeld, Paula Adriana
Publicado 2011

Efficacy of pentosan polysulfate in <i>in vitro</i> models of lysosomal storage disorders: Fabry and Gaucher Disease

por Crivaro, Andrea Natalia, Mucci, Juan Marcos, Bondar, Constanza María, Ormazabal, Maximiliano Emanuel, Ceci, Romina, Simonaro, Calogera, Rozenfeld, Paula Adriana
Publicado 2019

Osteocyte alterations induce osteoclastogenesis in an in vitro model of gaucher disease

por Bondar, Constanza María, Ormazabal, Maximiliano, Crivaro, Andrea Natalia, Ferreyra Compagnucci, Malena, Delpino, María Victoria, Rozenfeld, Paula Adriana, Mucci, Juan Marcos
Publicado 2017

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

por Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Bosco Oliveira, Joao, Rico Restrepo, Mariana, Rozenfeld, Paula Adriana, Zarante, Ignacio, Gonzaga Jauregui, Claudia
Publicado 2022

Enfermedad hepática y dislipemia como manifestación de deficiencia de lipasa acida lisosomal (LAL-D): aspectos clínicos, diagnósticos y nuevo tratamiento : Actualización

por Bay, Luisa, Velasco, Cristina Canero, Ciocca, Mirta, Cotti, Andrea, Cuarterolo, Miriam, Fainboim, Alejandro, Fassio, Eduardo, Galoppo, Marcela, Piñero, Federico, Rozenfeld, Paula Adriana
Publicado 2017

In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase

por Bondar, Constanza María, Mucci, Juan Marcos, Crivaro, Andrea Natalia, Ormazabal, Maximiliano Emanuel, Ceci, Romina, Oliveri, María Beatriz, González, D., Rozenfeld, Paula Adriana
Publicado 2017

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

por Dardis, Andrea Elena, Michelakakis, Helen, Rozenfeld, Paula Adriana, Fumic, Ksenija, Wagner, J., Pavan, Eleonora, Fuller, M., Revel‑Vilk, S., Hughes, D., Cox, Timothy, Aerts, Johannes
Publicado 2022

Exploring the pathophysiologic cascade leading to osteoclastogenic activation in gaucher disease monocytes generated via CRISPR/Cas9 technology

por Ormazabal, Maximiliano Emanuel, Pavan, Eleonora, Vaena, Emilio, Ferino, Dania, Biasizzo, Jessica, Mucci, Juan Marcos, Serra, Fabrizio, Cifù, Adriana, Scarpa, Maurizio, Rozenfeld, Paula Adriana, Dardis, Andrea Elena
Publicado 2023

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

por Reisin, Ricardo C., Mazziotti, Julieta, León Cejas, Luciana, Zinnerman, Alberto, Bonardo, Pablo, Fernández Pardal, Manuel, Martínez, Alejandra, Riccio, Patricia, Ameriso, Sebastián, Bendersky, Eduardo, Nofal, Pedro, Cairola, Patricia, Jure, Lorena, Sotelo, Andrea, Rozenfeld, Paula Adriana, Ceci, Romina, Casas-Parera, Ignacio, Sánchez Luceros, Analía, AISYF Investigators
Publicado 2018

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

por Hughes, Derralynn A., Aguiar, Patricio, Deegan, Patrick B., Ezgu, Fatih, Frustaci, Andrea, Lidove, Olivier, Linhart, Aleš, Lubanda, Jean-Claude, Moon, James C., Nicholls, Kathleen, Niu, Dau-Ming, Nowak, Albina, Ramaswami, Uma, Reisin, Ricardo, Rozenfeld, Paula Adriana, Schiffmann, Raphael, Svarstad, Einar, Thomas, Mark, Torra, Roser, Vujkovac, Bojan, Warnock, David G., West, Michael L., Johnson, Jack, Rolfe , Mark J., Feriozzi, Sandro
Publicado 2020