BONDAR, C.; BOLLA M; NEUMANN P; PISANI A; FERIOZZI S; ROZENFELD PA

Pathogenic pathways of the renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis

JN. JOURNAL OF NEPHROLOGY; Lugar: Milán (Italia); Año: 2024

ROZENFELD, PAULA; FERIOZZI, SANDRO; BRAUN, FABIAN

The role of tubular cells in the pathogenesis of Fabry nephropathy

Frontiers in Cardiovascular Medicine; Año: 2024 vol. 11

CRIVARO A; MUCCI JM; BONDAR, C.; ORMAZABAL, M.; VAENA EMILIO; DELPINO MV; ROZENFELD PA

Bone marrow adipocytes alteration in an in vitro model of Gaucher Disease

Molecular Genetics and Metabolism Reports; Año: 2023

ORMAZABAL MAXIMILIANO; PAVAN E; VAENA EMILIO; FERINO D; BIASIZZO J; MUCCI JM; SERRA F; CIFU A; SCARPA M; ROZENFELD PA; DARDIS A

Exploring the pathophysiologic cascade leading to osteoclastogenic activation in Gaucher Disease monocytes generated by CRISPR/Cas9 technology

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; Lugar: Basel; Año: 2023

GIUGLIANI R; CASTILLO TAUCHER S; HAFEZ S; BOSCO OLIVEIRA J; RICO-RESTREPO M; ROZENFELD PA; ZARANTE´I; GONZAGA-JAUREGUI C

Opportunities and Challenges for Newborn Screening and Early Diagnosis of Rare Diseases in Latin America

Frontiers in Genetics; Año: 2022

DARDIS A; MICHELAKAKIS H; ROZENFELD PA; FUMIC K; WAGNER JC; PAVAN E; FULLER M; REVEL VILK J; HUGHES D; COX T; AERTS J

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type1

ORPHANET JOURNAL OF RARE DISEASES; Lugar: Londres; Año: 2022

MARTIN, CHOUA; PABLO, NEUMANN; PEDRO, QUIETO; PAULA, ROZENFELD; BRUNO, LOCOCO; MANUEL, ABASCAL JUAN; JORGE, ABDALA; ALEJANDRA, AGUERRE MARIA; ARTURO, ARIAS; OSCAR, ALVAREZ; WALTER, BONFANTI; DENNIS, BUENO; MONICA, CALVO; CARLOS, CASAS; RAUL, CEJAS; DANIEL, D?ERRICO; CARLOS, ESPECHE JUAN; CARLOS, FERNANDEZ JUAN; PABLO, FERNANDEZ; SEGUNDO, FERNANDEZ; ROLANDO, FEULI; CARLOS, FRAGUEIRO; LAURA, GIL; MARIA, GINI; CARLOS, GUTIERREZ; ANIBAL, GASTALDI; CARLOS, LARA; SILVINA, LIZIARDI; LIDIA, LLUDGAR MARIA; SILVIA, MATTAUSCH; ALICIA, MARINI; ALFONSO, MARTINEZ; NORA, MARCHETTA; SANDRA, MENDEZ; JOSE, MORENO; ADRIANA, PETROS; SILVINA, PRIORI; ROQUE, QUERCI; ROSA, RAMIREZ MARIA; NICOLAS, RICOBELLI; BEATRIZ, SEGOVIA; JAVIER, SENA; CRISTINA, STEPANENKO; LUIS, URTIAGA; VANESA, VAZQUEZ

Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages

JN. JOURNAL OF NEPHROLOGY; Año: 2022 vol. 35 p. 2437 - 2440

ROZENFELD PA; CRIVARO, A.; ORMAZABAL, M.; MUCCI JM; BONDAR C; DELPINO MV

Unraveling the mystery of Gaucher bone density pathophysiology

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2021

MORENO MARTINEZ D; AGUIAR P; AURAY BLAIS C; BECK M; BICHET; BURLINA A; COLE D; ELLIOT P; ROZENFELD PA; HUGHES D

Standardising clinical outcomes measures for adult clinical trials in Fabry Disease: A global Delphi Consensus

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2021 vol. 132 p. 234 - 243

FERIOZZI S; ROZENFELD PA

Pathology and pathogenic pathways in Fabry nephropathy

CLINICAL AND EXPERIMENTAL NEPHROLOGY; Lugar: Berlin; Año: 2021

CALABRESE E; BOTTA G; ROZENFELD PA

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

Molecular Genetics and Metabolism Reports; Año: 2021

FERRARI G; REISIN R; KISINOVSKY I; NEUMANN P; DRAGONETTI L; CHOUA M; ROZENFELD PA; MARCHESONI C; FINN V

Major cardiovascular adverse events in Fabry disease patients receiving agalsidase alfa

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2021

CRIVARO, ANDREA; BONDAR, CONSTANZA; MUCCI, JUAN MARCOS; ORMAZABAL, MAXIMILIANO; FELDMAN RA; DELPINO MV; ROZENFELD, PAULA ADRIANA

Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2020 vol. 130 p. 274 - 282

HUGHES D; AGUIAR P; ROZENFELD PA

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 Delphi consensus initiative

British Medical Journal Open; Año: 2020

OLIVERI, B.; GONZALEZ D; ROZENFELD, PAULA ADRIANA; FERRARI EMMA; GUTIERREZ GLADYS

Diagnóstico temprano de enfermedad de Gaucher mediante detección de manifestaciones óseas.

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2020

SALINAS CASTELLANOS; ROZENFELD, P.A; GATTO RC; REISIN R; UCHITEL OD; WEISMMAN C

Upregulation of ASIC1a channels in an in vitro model of Fabry disease

NEUROCHEMISTRY INTERNATIONAL; Lugar: Amsterdam; Año: 2020

ROZENFELD PA; BOLLA M; QUIETO P; PISANI A; FERIOZZI S; NEUMANN P; BONDAR C

Pathogenesis of Fabry nephropathy: the pathways leading to fibrosis

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2020

PAVAN E; ORMAZABAL, MAXIMILIANO; PERUZZO PAOLO; VAENA EMILIO; ROZENFELD PA; DARDIS A

CRISPR/Cas9 editing for Gaucher disease modelling

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; Lugar: Basel; Año: 2020

REISIN R; ROZENFELD PA; BONARDO PABLO

FABRY DISEASE: INCREASED RISK OF STROKE IN THE COVID-19 ERA

MEDICAL HYPOTHESES; Lugar: ESCOCIA; Año: 2020

OLIVERI B; GONZALEZ D; QUIROGA F; SILVA C; ROZENFELD P

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

CALCIFIED TISSUE INTERNATIONAL; Lugar: Berlin; Año: 2019 vol. 104 p. 650 - 657

CRIVARO, A.; MUCCI JM; BONDAR C; ORMAZABAL, M.; CECI R; SIMONARO C; ROZENFELD PA

Efficacy of Pentosan Polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

PLOS ONE; Lugar: San Francisco; Año: 2019

ROZENFELD PA; MASLLORENS F; ROA N; RODRIGUEZ MF; BONNANO M; YVORRA C; CECI, R

Fabry pedigree analysis: a successful program for targeted genetic approach

Molecular Genetics & Genomic Medicine; Año: 2019

REISIN R; MAZZIOTI JULIETA; LEON CEJAS LUCIANA; ZINNERMAN ALBERTO; BONARDO PABLO; ROZENFELD PA; CECI R

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES; Lugar: Amsterdam; Año: 2018 vol. 27 p. 575 - 582

BONDAR, C.; MUCCI, J.; CRIVARO, A.; ORMAZABAL, M.; CECI, R.; OLIVERI, B.; GONZÁLEZ, D.; ROZENFELD, P.

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

BONE; Año: 2017 vol. 103 p. 262 - 269

BONDAR, CONSTANZA; ORMAZABAL, MAXIMILIANO; CRIVARO, ANDREA; FERREYRA-COMPAGNUCCI, MALENA; DELPINO, MARÍAVICTORIA; ROZENFELD, PAULA ADRIANA; MUCCI, JUAN MARCOS

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

International Journal of Molecular Sciences; Año: 2017 vol. 18

BAY L; CAÑERO VELASCO C; CIOCCA M; COTTI A; CUARTEROLO M; FAINBOIM A; FASSIO A; GALOPPO M; PIÑERO F; ROZENFELD PA

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update

ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires; Año: 2017 vol. 115

ROZENFELD PA; FERIOZZI S

Contribution of inflammatory pathways to Fabry disease pathogenesis

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2017 vol. 122 p. 19 - 27

ROZENFELD PA

Enfermedad de Fabry en Argentina

ACTA BIOQUíMICA CLíNICA LATINOAMERICANA; Lugar: La Plata; Año: 2016 vol. 50 p. 17 - 25

MUCCI JM; CUELLO F; KISINOVSKI I; LARROUDE M; DELPINO MV; ROZENFELD PA

Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: implication for bone pathology

BLOOD CELLS MOLECULES AND DISEASES; Lugar: Amsterdam; Año: 2015 vol. 55 p. 134 - 143

MUCCI JM; ROZENFELD PA

Pathogenesis of Bone Alterations in Gaucher disease: The Role of Immune System

Journal Immunology Research; Año: 2015

CIANCIULLI T; SACCHERI C; FERNANDEZ S; FERNANDEZ C; ROZENFELD, P.A; KISINOVSKI I

Apical Left Ventricular Hypertrophy and Mid-Ventricular Obstruction in Fabry Disease

Ecocardiography; Año: 2015 vol. 32 p. 860 - 863

ROZENFELD PA; CECI R; ROA N; KISINOVSKI I

The continuous challenge of diagnose Fabry patients in Argentina: genotype, experiences, anecdotes and new learnings

JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING; Año: 2015 p. 1 - 7

MUCCI JM; ROZENFELD PA

Examining the impact of bone pathology on type I Gaucher's disease

Clinical Lipidology; Año: 2014 vol. 9 p. 61 - 70

AMARTINO H; CECI, R; MASLLORENS F; GAL A; ARBERAS C; BAY, L; ILARI,R; DIPIERRI, J; SPECOLA, N; CABRERA A; ROZENFELD, P.A

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports; Año: 2014 p. 401 - 406

SACCHERI C; CIANCIULLI T; LAX J; GAGLIARGI J; CACERES G; QUARIN A; KISINOVSKY; ROZENFELD PA; REISIN R

Two-dimensional speckle tracking echocardiography for early detection of myocardial damage in young patients with Fabry disease

ECHOCARDIOGRAPHY (MOUNT KISCO, N.Y.); Lugar: Londres; Año: 2013 vol. 30 p. 1069 - 1077

CONSENSO DE MÉDICOS DE AADELFA Y GADYTEF; ROZENFELD, P.A

Guidelines for diagnosis, monitoring and treatment of Fabry disease

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2013 vol. 73 p. 482 - 494

MUCCI JM; SUQUELLI GARCIA, F; DE FRANCESCO, PN; CECI R; DI GENARO S; FOSSATI CA; DELPINO MV; ROZENFELD PA

Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease

GENE; Lugar: Amsterdam; Año: 2013 vol. 532 p. 186 - 191

DE FRANCESCO, PN; MUCCI JM; CECI R; FOSSATI CA; ROZENFELD PA

Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide

MOLECULAR GENETICS AND METABOLISM; Lugar: Amsterdam; Año: 2013

MUCCI JM; SCIAN R; DE FRANCESCO, PN; SUQUELLI GARCIA, F; CECI R; FOSSATI CA; DELPINO, MV; ROZENFELD PA

Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-α

GENE; Lugar: Amsterdam; Año: 2012 vol. 509 p. 51 - 59

DE FRANCESCO, PN; MUCCI J; CECI R; FOSSATI CA; ROZENFELD PA

Higher apoptotic state in Fabry disease peripheral blood mononuclear cells. Effect of globotriaosylceramide.

MOLECULAR GENETICS AND METABOLISM; Año: 2011 vol. 104 p. 319 - 324

CECI R; DE FRANCESCO, PN; MUCCI JM; CANCELARICH L; FOSSATI CA; ROZENFELD PA

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

Advances in Biological Chemistry; Año: 2011 vol. 1 p. 58 - 64

ROZENFELD PA; FRITZ M; BLANCO P; GONZALEZ P; RINALDI G

Myocardial alterations in the murine model of Fabry disease can be reversed by enzyme replacement therapy (ERT)

CANADIAN JOURNAL OF CARDIOLOGY; Año: 2011 vol. 27 p. 339 - 345

ROZENFELD PA; NEUMANN P

Treatment of Fabry disease: Current and emerging strategies

CURRENT PHARMACEUTICAL BIOTECHNOLOGY; Año: 2011 vol. 12 p. 916 - 922

GUELBERT N; AMARTINO H; ARBERAS C; AZAR N; BAY L; FAINBOIM A; FERNANDEZ MC; GINER A; ILARI R; MARCHIONE D; MASLLORENS F; PEROCHENA J; RICCHERI C; RICHARD L; ROZENFELD PA; SERAFIN E; SZLAGO M; VALDEZ R

Guía argentina para el diagnóstico, el seguimiento y el tratamiento de la Mucopolisacaridosis Tipo II (MPS-II) o Enfermedad de Hunter

ARCHIVOS ARGENTINOS DE PEDIATRIA; Año: 2011 vol. 109 p. 175 - 181

AADELFA; REISIN R; DOXASTAQUIS G; KISINOVSKY I; CACERES G; TARABUSO A; NEUMANN P; EBNER R; MARTINEZ P; ROZENFELD PA

Evaluacion de pacientes con enfermedad de Fabry en la Argentina

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 2010 vol. 70 p. 37 - 43

ROZENFELD PA; DE FRANCESCO, PN; BORRAJO, GJC; CECI, R; FOSSATI CA

An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring

CLINICA CHIMICA ACTA; Lugar: Amsterdam; Año: 2009 vol. 403 p. 194 - 197

ROZENFELD PA; AGRIELLO E; DE FRANCESCO, PN; MARTINEZ P; FOSSATI CA

Leukocyte perturbation associated with Fabry disease

JOURNAL OF INHERITED METABOLIC DISEASE; Lugar: Heidelberg; Año: 2009 p. 1 - 11

ROZENFELD PA

"Fabry disease: Treatment and diagnosis"

IUBMB LIFE; Lugar: Boston; Año: 2009 vol. 61 p. 1043 - 1050

MARTINEZ P; AGGIO M; ROZENFELD PA

High incidence of autoantibodies in Fabry disease patients

JOURNAL OF INHERITED METABOLIC DISEASE; Año: 2007 vol. 24 p. 365 - 369

NEUMANN P; ROZENFELD PA

Manifestaciones nefrológicas de pacientes con Enfermedad de Fabry en Argentina

Nefrologia, diálisis y trasplante; Año: 2007 vol. 27 p. 99 - 102

ROZENFELD PA; TARABUSO A; EBNER R; RAMALLO G; FOSSATI CA

A successful approach for the detection of Fabry patients in Argentina

CLINICAL GENETICS; Año: 2006 vol. 69 p. 344 - 348

ROZENFELD, P.A; CROXATTO O; EBNER R; FOSSATI CA

Immunofluorescence detection of Gb3 deposits in conjunctival biopsies of hemizygote and heterozygote patients with Fabry´s disease

CLINICAL & EXPERIMENTAL OPHTHALMOLOGY.; Año: 2006 vol. 34 p. 689 - 694

ROZENFELD PA; DOCENA GH; ANON MC; FOSSATI CA

Detection and identification of a soy protein component that cross react with caseins from cow milk

CLINICAL AND EXPERIMENTAL IMMUNOLOGY; Año: 2002 vol. 130 p. 49 - 58

DOCENA GH; ROZENFELD PA; FERNANDEZ R; FOSSATI CA

Evaluation of the residual antigenicity and allergenicity of cow's milk substitutes by in vitro tests

ALLERGY; Lugar: Montpellier; Año: 2002 vol. 57 p. 83 - 91

SERRADELL, M.A; ROZENFELD, P.A; MARTINEZ, G.A; CIVELLO, P.M; CHAVES, A.R; AÑÓN, M.C

Polyphenoloxidase activity from Selva strawberry fruit (Fragaria x ananassa, Duch.): characterisation and partial purification

JOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE; Año: 2000 vol. 80 p. 1421 - 1427