Fabry pedigree analysis: A successful program for targeted genetic approach

Autor: Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)

Abstract Background Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay

Externí odkaz: https://doaj.org/article/d89a7021f0ca4a39934950bfb31e039c

Serum creatinine. From clinical practice to epidemiology through determination standards and quality control across clinical laboratories

Autor: Ana María Cusumano, Gustavo A. Velasco, María Eugenia Bianchi, Candela Torres, Romina Ceci, Daniel Mazziotta, Felipe Inserra

Publikováno v: Revista de Nefrología, Diálisis y Trasplante, Vol 36, Iss 3, Pp 187-196 (2016)

This article attempts to show why it is necessary to improve quality control of clinical laboratories and move toward standardization of serum creatinine to help improve clinical and epidemiological diagnosis of chronic kidney disease especially in L

Externí odkaz: https://doaj.org/article/c1eebd461ea3425e995aae410ef3db38

Lyso-Gb3 determination in classic and late onset Fabry patients

Autor: Paula A. Rozenfeld, Romina Ceci, Agueda Velazco, Emilio Vaena, Andrea N. Crivaro, Juan M. Mucci, Maximiliano E. Ormazabal, Constanza Bondar

Publikováno v: Molecular Genetics and Metabolism. 138:107299

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae693922190a871e7fd19242ee9cba4e
https://doi.org/10.1016/j.ymgme.2022.107299

Fabry pedigree analysis: A successful program for targeted genetic approach

Autor: Romina Ceci, Norma Roa, Carolina Yvorra, Mariela Bonnano, Fernanda Rodriguez, Paula Rozenfeld, Francisca Masllorens

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP

Background: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1849177e231ab2621526c86d56e518b2
Wiley Online Library

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

Autor: Ricardo C. Reisin, Julieta Mazziotti, Luciana León Cejas, Alberto Zinnerman, Pablo Bonardo, Manuel Fernández Pardal, Alejandra Martínez, Patricia Riccio, Sebastián Ameriso, Eduardo Bendersky, Pedro Nofal, Patricia Cairola, Lorena Jure, Andrea Sotelo, Paula Rozenfeld, Romina Ceci, Ignacio Casas-Parera, Analía Sánchez-Luceros, Reisin Ricardo, Mazziotti Julieta, León Cejas Luciana, Bonardo Pablo, Miñarro Diego, Fernández Pardal Manuel, Belén Tillard, De Francesco Laura, Tkachukt Verónica, Humanchio Janina, Riccio Patricia, Sposatto Luciano, Klein Francisco, Muñoz Francisco, Gonzalez Toledo Eugenia, Ameriso Sebastián, Pujol Virginia, Povedano Guillermo, Zinnerman Alberto, Martínez Alejandra, Conti Eugenia, Messina Juan, Casas Parera Ignacio, Tafur José, Gatto Emilia, Persi Gabriel, Bendersky Eduardo, Montero Lorena, Ateca Alicia, Allegri Ricardo, Bartoloni Leonardo, Di Egidio Mariana, Ciardi Celina, Alleva Alejandro, Rivero Alberto, Romano Marina, Cairola Patricia, Sanchez LucerosAnalía, Meschengesier Susana, Halfon Javier, Schubaroff Pablo, Calandra Cristian, Pedersoli Luis Martín, Zuccolo Laura, Reynoso Félix, Nofal Pedro, Leri Mónica, Bruera Guadalupe, Sotelo Andrea

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dcadf3d37cb954602547f25f19e3263
https://pubmed.ncbi.nlm.nih.gov/29132836