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Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female.
Published in:
NDT Plus, 2009, v. 2, n. 6, p. 455
By:
- Mignani, Renzo;
- Preda, Paola;
- Granata, Antonio;
- Maldini, Laura;
- De Giovanni, Paola;
- Montevecchi, Marcello;
- Rigotti, Angelo;
- Cagnoli, Leonardo
Publication type:
Article
Interpretation of GFR slope in untreated and treated adult Fabry patients.
Published in:
Nephrology Dialysis Transplantation, 2024, v. 39, n. 1, p. 18, doi. 10.1093/ndt/gfad164
By:
- Pisani, Antonio;
- Pieruzzi, Federico;
- Cirami, Calogero Lino;
- Riccio, Eleonora;
- Mignani, Renzo
Publication type:
Article
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2390
By:
- Capelli, Irene;
- Di Costanzo, Roberta;
- Aiello, Valeria;
- Lerario, Sarah;
- De Giovanni, Paola;
- Montevecchi, Marcello;
- Cerretani, Davide;
- Donadio, Vincenzo;
- La Manna, Gaetano;
- Mignani, Renzo
Publication type:
Article
Small fiber neuropathy in female patients with fabry disease.
Published in:
Muscle & Nerve, 2010, v. 41, n. 3, p. 409, doi. 10.1002/mus.21606
By:
- Liguori, Rocco;
- Di Stasi, Vitantonio;
- Bugiardini, Enrico;
- Mignani, Renzo;
- Burlina, Alessandro;
- Borsini, Walter;
- Baruzzi, Agostino;
- Montagna, Pasquale;
- Donadio, Vincenzo
Publication type:
Article
La terapia nella malattia di Fabry.
Published in:
Giornale di Clinica Nefrologica e Dialisi, 2019, v. 31, n. 3, p. 206, doi. 10.1177/0394936219869174
By:
- Mignani, Renzo
Publication type:
Article
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
By:
- Filoni, Camilla;
- Caciotti, Anna;
- Carraresi, Laura;
- Donati, Maria Alice;
- Mignani, Renzo;
- Parini, Rossella;
- Filocamo, Mirella;
- Soliani, Fausto;
- Simi, Lisa;
- Guerrini, Renzo;
- Zammarchi, Enrico;
- Morrone, Amelia
Publication type:
Article
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03049-5
By:
- Mignani, Renzo;
- Americo, Claudio;
- Aucella, Filippo;
- Battaglia, Yuri;
- Cianci, Vittoria;
- Sapuppo, Annamaria;
- Lanzillo, Chiara;
- Pennacchiotti, Fabio;
- Tartaglia, Luciano;
- Marchi, Giacomo;
- Pieruzzi, Federico
Publication type:
Article
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 56, doi. 10.1002/jmd2.12411
By:
- Burlina, Alberto B.;
- Burlina, Alessandro P.;
- Mignani, Renzo;
- Cazzorla, Chiara;
- Gueraldi, Daniela;
- Puma, Andrea;
- Loro, Christian;
- Baumgartner, Matthias R.;
- Gragnaniello, Vincenza
Publication type:
Article
Potential resistance to SARS-CoV-2 infection in lysosomal storage disorders.
Published in:
Clinical Kidney Journal, 2021, v. 14, n. 5, p. 1488, doi. 10.1093/ckj/sfab045
By:
- Pieroni, Maurizio;
- Pieruzzi, Federico;
- Mignani, Renzo;
- Graziani, Francesca;
- Olivotto, Iacopo;
- Riccio, Eleonora;
- Ciabatti, Michele;
- Limongelli, Giuseppe;
- Manna, Raffaele;
- Bolognese, Leonardo;
- Pisani, Antonio
Publication type:
Article
New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.
Published in:
Clinical Kidney Journal, 2020, v. 13, n. 5, p. 909, doi. 10.1093/ckj/sfz010
By:
- Mignani, Renzo;
- Pieroni, Maurizio;
- Pisani, Antonio;
- Spada, Marco;
- Battaglia, Yuri;
- Verrecchia, Elena;
- Mangeri, Mario;
- Feriozzi, Sandro;
- Tanini, Ilaria;
- Danieli, Gianluca De;
- Pieruzzi, Federico
Publication type:
Article
New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.
Published in:
Clinical Kidney Journal, 2019, v. 12, n. 1, p. 65, doi. 10.1093/ckj/sfy108
By:
- Mignani, Renzo;
- Pieroni, Maurizio;
- Pisani, Antonio;
- Spada, Marco;
- Battaglia, Yuri;
- Verrecchia, Elena;
- Mangeri, Mario;
- Feriozzi, Sandro;
- Tanini, Ilaria;
- Danieli, Gianluca De;
- Pieruzzi, Federico
Publication type:
Article
FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.
Published in:
Clinical Kidney Journal, 2016, v. 9, n. 5, p. 739, doi. 10.1093/ckj/sfw082
By:
- Mignani, Renzo;
- Pieruzzi, Federico;
- Berri, Francesco;
- Burlina, Alessandro;
- Chinea, Benito;
- Gallieni, Maurizio;
- Pieroni, Maurizio;
- Salviati, Alessandro;
- Spada, Marco
Publication type:
Article
Trabecular complexity as an early marker of cardiac involvement in Fabry disease.
Published in:
European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 2, p. 200, doi. 10.1093/ehjci/jeaa354
By:
- Camporeale, Antonia;
- Moroni, Francesco;
- Lazzeroni, Davide;
- Garibaldi, Silvia;
- Pieroni, Maurizio;
- Pieruzzi, Federico;
- Lusardi, Paola;
- Spada, Marco;
- Mignani, Renzo;
- Burlina, Alessandro;
- Carubbi, Francesca;
- Econimo, Laura;
- Battaglia, Yuri;
- Graziani, Francesca;
- Pica, Silvia;
- Chow, Kelvin;
- Camici, Paolo G;
- Lombardi, Massimo
Publication type:
Article
The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts.
Published in:
2020
By:
- Chimenti, Cristina;
- Nencini, Patrizia;
- Pieruzzi, Federico;
- Feriozzi, Sandro;
- Mignani, Renzo;
- Pieroni, Maurizio;
- Pisani, Antonio;
- on behalf of the GALA Working Group;
- Battaglia, Yuri;
- Bersano, Anna;
- Fiumara, Agata;
- Lanzillo, Chiara;
- Piga, Stefania;
- Re, Federica;
- Rubino, Marta;
- Zedde, Maria Luisa;
- GALA Working Group
Publication type:
journal article
Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 438, doi. 10.1002/mgg3.292
By:
- Mignani, Renzo;
- Moschella, Mariarita;
- Cenacchi, Giovanna;
- Donati, Ilaria;
- Flachi, Marta;
- Grimaldi, Daniela;
- Cerretani, Davide;
- Giovanni, Paola De;
- Montevecchi, Marcello;
- Rigotti, Angelo;
- Ravasio, Alessandro
Publication type:
Article
Persistent left superior vena cava: what the interventional nephrologist needs to know.
Published in:
Journal of Vascular Access, 2009, v. 10, n. 3, p. 207, doi. 10.1177/112972980901000313
By:
- Granata, Antonio;
- Andrulli, Simeone;
- Fiorini, Fulvio;
- Logias, Francesco;
- Figuera, Michele;
- Mignani, Renzo;
- Basile, Antonio;
- Fiore, Carmelo Erio
Publication type:
Article
Comparison of Total Kidney Volume Quantification Methods in Autosomal Dominant Polycystic Disease for a Comprehensive Disease Assessment.
Published in:
2017
By:
- Turco, Dario;
- Busutti, Marco;
- Mignani, Renzo;
- Magistroni, Riccardo;
- Corsi, Cristiana
Publication type:
journal article
Comment on the Paper: 'Novel Approach to Estimate Kidney and Cyst Volumes Using Mid-Slice Magnetic Resonance Images in Polycystic Kidney Disease'.
Published in:
American Journal of Nephrology, 2014, v. 39, n. 2, p. 163, doi. 10.1159/000358911
By:
- Corsi, Cristiana;
- Mignani, Renzo;
- Turco, Dario;
- Magistroni, Riccardo;
- Severi, Stefano
Publication type:
Article
Assessment of Kidney Volume in Polycystic Kidney Disease Using Magnetic Resonance Imaging without Contrast Medium.
Published in:
American Journal of Nephrology, 2011, v. 33, n. 2, p. 176, doi. 10.1159/000324039
By:
- Mignani, Renzo;
- Corsi, Cristiana;
- De Marco, Mariangela;
- Caiani, Enrico G.;
- Santucci, Gioele;
- Cavagna, Enrico;
- Severi, Stefano;
- Cagnoli, Leonardo
Publication type:
Article
TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
Published in:
2019
By:
- Magistroni, Riccardo;
- Mangolini, Alessandra;
- Guzzo, Sonia;
- Testa, Francesca;
- Rapanà, Mario R.;
- Mignani, Renzo;
- Russo, Giorgia;
- di Virgilio, Francesco;
- Aguiari, Gianluca
Publication type:
journal article
Parapelvic cysts, a distinguishing feature of renal Fabry disease.
Published in:
Nephrology Dialysis Transplantation, 2018, v. 33, n. 2, p. 318, doi. 10.1093/ndt/gfx009
By:
- Pisani, Antonio;
- Annicchiarico, Luigi Petruzzelli;
- Pellegrino, Angela;
- Bruzzese, Dario;
- Feriozzi, Sandro;
- Imbriaco, Massimo;
- Tedeschi, Enrico;
- Cocozza, Sirio;
- De Rosa, Dario;
- Mignani, Renzo;
- Veroux, Massimiliano;
- Battaglia, Yuri;
- Concolino, Daniela;
- Sestito, Simona;
- Pieruzzi, Federico;
- Caroti, Leonardo;
- Manna, Raffaele;
- Zizzo, Carmela;
- Santangelo, Michele;
- Sabbatini, Massimo
Publication type:
Article
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Published in:
Nephrology Dialysis Transplantation, 2012, v. 27, n. 3, p. 1042
By:
- Warnock, David G.;
- Ortiz, Alberto;
- Mauer, Michael;
- Linthorst, Gabor E.;
- Oliveira, João P.;
- Serra, Andreas L.;
- Maródi, László;
- Mignani, Renzo;
- Vujkovac, Bojan;
- Beitner-Johnson, Dana;
- Lemay, Roberta;
- Cole, J.Alexander;
- Svarstad, Einar;
- Waldek, Stephen;
- Germain, Dominique P.;
- Wanner, Christoph
Publication type:
Article
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Published in:
Nephrology Dialysis Transplantation, 2010, v. 25, n. 3, p. 769, doi. 10.1093/ndt/gfp554
By:
- Ortiz, Alberto;
- Cianciaruso, Bruno;
- Cizmarik, Marta;
- Germain, Dominique P.;
- Mignani, Renzo;
- Oliveira, João Paulo;
- Villalobos, Jacobo;
- Vujkovac, Bojan;
- Waldek, Stephen;
- Wanner, Christoph;
- Warnock, David G.
Publication type:
Article
Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female.
Published in:
Nephrology Dialysis Transplantation, 2009, v. 2, n. 6, p. 455, doi. 10.1093/ndtplus/sfp104
By:
- Mignani, Renzo;
- Preda, Paola;
- Granata, Antonio;
- Maldini, Laura;
- De Giovanni, Paola;
- Montevecchi, Marcello;
- Rigotti, Angelo;
- Cagnoli, Leonardo
Publication type:
Article
Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.
Published in:
Nephrology Dialysis Transplantation, 2008, v. 23, n. 5, p. 1628, doi. 10.1093/ndt/gfm813
By:
- Renzo Mignani;
- Sandro Feriozzi;
- Antonio Pisani;
- Antonio Cioni;
- Cristina Comotti;
- Maria Cossu;
- Annalisa Foschi;
- Antonio Giudicissi;
- Eliana Gotti;
- Vito Antonio Lozupone;
- Francesco Marchini;
- Fabrizio Martinelli;
- Francesco Bianco;
- Vincenzo Panichi;
- Deni Aldo Procaccini;
- Elena Ragazzoni;
- Andrea Serra;
- Fausto Soliani;
- Letizia Spinelli;
- Giacomo Torti
Publication type:
Article
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Published in:
Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 9, p. 1516, doi. 10.1515/cclm-2021-0316
By:
- Malvagia, Sabrina;
- Ferri, Lorenzo;
- Della Bona, Maria;
- Borsini, Walter;
- Cirami, Calogero Lino;
- Dervishi, Egrina;
- Feriozzi, Sandro;
- Gasperini, Serena;
- Motta, Serena;
- Mignani, Renzo;
- Trezzi, Barbara;
- Pieruzzi, Federico;
- Morrone, Amelia;
- Daniotti, Marta;
- Donati, Maria Alice;
- la Marca, Giancarlo
Publication type:
Article
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Published in:
PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180581
By:
- Liguori, Rocco;
- Incensi, Alex;
- de Pasqua, Silvia;
- Mignani, Renzo;
- Fileccia, Enrico;
- Santostefano, Marisa;
- Biagini, Elena;
- Rapezzi, Claudio;
- Palmieri, Silvia;
- Romani, Ilaria;
- Borsini, Walter;
- Burlina, Alessandro;
- Bombardi, Roberto;
- Caprini, Marco;
- Avoni, Patrizia;
- Donadio, Vincenzo
Publication type:
Article
Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?
Published in:
2009
By:
- Mignani, Renzo;
- Morrone, Amelia
Publication type:
Letter
Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study.
Published in:
2004
By:
- Mignani, Renzo;
- Panichi, Vincenzo;
- Giudicissi, Antonio;
- Taccola, Daniele;
- Boscaro, Francesca;
- Feletti, Carlo;
- Moneti, Gloriano;
- Cagnoli, Leonardo
Publication type:
journal article
CLINICAL NEPHROLOGY - EPIDEMIOLOGY - CLINICAL TRIALS Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: A pilot study.
Published in:
Kidney International, 2004, v. 65, n. 4, p. 1381, doi. 10.1111/j.1523-1755.2004.00514.x
By:
- Mignani, Renzo;
- Panichi, Vincenzo;
- Giudicissi, Antonio;
- Taccola, Daniele;
- Boscaro, Francesca;
- Feletti, Carlo;
- Moneti, Gloriano;
- Cagnoli, Leonardo
Publication type:
Article
GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT.
Published in:
2011
By:
- Granata, Antonio;
- Floccari, Fulvio;
- Mignani, Renzo;
- Gallieni, Maurizio
Publication type:
Letter
IgA nephropathy and atypical hemolytic uremic syndrome: a case series and a literature review.
Published in:
Journal of Nephrology (JNonline), 2022, v. 35, n. 4, p. 1091, doi. 10.1007/s40620-021-01189-6
By:
- Manenti, Lucio;
- Rossi, Giovanni Maria;
- Pisani, Isabella;
- Gentile, Micaela;
- Fontana, Francesco;
- Pilato, Francesco Paolo;
- Delsante, Marco;
- Ricco, Federico;
- Mignani, Renzo;
- Mele, Caterina;
- Bresin, Elena;
- Fiaccadori, Enrico
Publication type:
Article
Fabry disease: perspectives of urinary proteomics.
Published in:
Journal of Nephrology (JNonline), 2010, v. 23, p. S199
By:
- Cuccurullo, Manuela;
- Beneduci, Amerigo;
- Anand, Santosh;
- Mignani, Renzo;
- Cianciaruso, Bruno;
- Bachi, Angela;
- Capasso, Giovambattista
Publication type:
Article

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