Bibliotecas PUC-SP - Busca Integrada

Recent advances in the clinical management of autosomal dominant polycystic kidney disease [version 1; referees: 2 approved]

od Roser Torra
izdano v F1000Research (2019-01-01)

Dietary Aspects and Drug-Related Side Effects in Autosomal Dominant Polycystic Kidney Disease Progression

od Borja Quiroga, Roser Torra
izdano v Nutrients (2022-11-01)

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

od Fernando C Fervenza, Roser Torra, David G Warnock
izdano v Biologics: Targets & Therapy (2008-11-01)

A review on autosomal dominant tubulointerstitial kidney disease

od Nadia Ayasreh, Rosa Miquel, Ana Matamala, Elisabet Ars, Roser Torra
izdano v Nefrología (English Edition) (2017-05-01)

Phenotypic variability in cystinosis: Lessons from an atypical case

od Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra
izdano v Nefrología (English Edition) (2025-08-01)

Revisión de la nefropatía tubulointersticial autosómica dominante

od Nadia Ayasreh Fierro, Rosa Miquel Rodríguez, Ana Matamala Gastón, Elisabet Ars Criach, Roser Torra Balcells
izdano v Nefrología (2017-05-01)

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

od Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells
izdano v Nefrología (English Edition) (2023-12-01)

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

od Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells
izdano v Nefrología (2023-12-01)

Clinical management of female patients with Fabry disease based on expert consensus

od Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen
izdano v Orphanet Journal of Rare Diseases (2025-01-01)

Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN

od Miquel Blasco, Borja Quiroga, José M. García-Aznar, Roser Torra, Alberto Ortiz, Patricia de Sequera
izdano v Nefrología (2024-07-01)

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

od Andrea Domingo-Gallego, Mónica Furlano, Marc Pybus, Daniel Barraca, Ana Belén Martínez, Emiliano Mora Muñoz, Roser Torra, Elisabet Ars
izdano v BMC Nephrology (2019-04-01)

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

od Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra
izdano v Case Reports in Genetics (2022-01-01)

Estudio genético en adultos con glomeruloesclerosis focal y segmentaria

od Melissa Pilco-Terán, Amir Shabaka, Mónica Furlano, Ana Tato Ribera, Isabel Galán Carrillo, Eduardo Gutiérrez, Roser Torra, Gema Fernández-Juárez
izdano v Nefrología (2025-02-01)

Indications for genetic testing in adults with focal segmental glomerulosclerosis

od Melissa Pilco-Terán, Amir Shabaka, Mónica Furlano, Ana Tato Ribera, Isabel Galán Carrillo, Eduardo Gutiérrez, Roser Torra, Gema Fernández-Juárez
izdano v Nefrología (English Edition) (2025-02-01)

Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?

od Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West, Sandro Feriozzi
izdano v Orphanet Journal of Rare Diseases (2022-02-01)

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

od Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
izdano v Molecular Genetics and Metabolism Reports (2021-09-01)

Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]

od Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
izdano v Molecular Genetics and Metabolism Reports (2021-12-01)

Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa

od Gema Ariceta, María José Buj, Mónica Furlano, Víctor Martínez, Anna Matamala, Montserrat Morales, Nicolás Roberto Robles, Laia Sans, Felipe Villacampa, Roser Torra
izdano v Nefrología (2020-03-01)

Recommendations for the management of renal involvement in tuberous sclerosis complex

od Gema Ariceta, María José Buj, Mónica Furlano, Víctor Martínez, Anna Matamala, Montserrat Morales, Nicolás Roberto Robles, Laia Sans, Felipe Villacampa, Roser Torra
izdano v Nefrología (English Edition) (2020-03-01)

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)

od Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya
izdano v Stem Cell Research (2017-12-01)