Works by Emma, Francesco

Results: 112
    1

    Dent disease: clinical practice recommendations Open Access.

    Published in:
    Nephrology Dialysis Transplantation, 2025, v. 40, n. 5, p. 852, doi. 10.1093/ndt/gfaf003
    By:
    • Bökenkamp, Arend;
    • Ariceta, Gema;
    • Böckenhauer, Detlef;
    • Devuyst, Olivier;
    • Emma, Francesco;
    • Bennekom, David van;
    • Levtchenko, Elena;
    • Sayer, John;
    • Servais, Aude;
    • Vargas, Rosa;
    • Zaniew, Marcin;
    • Prikhodina, Larisa
    Publication type:
    Article
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    Gender-related effects on urine l-cystine metastability.

    Published in:
    Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9
    By:
    • Masotti, Andrea;
    • Laurenzi, Chiara;
    • Boenzi, Sara;
    • Pastore, Anna;
    • Taranta, Anna;
    • Bellomo, Francesco;
    • Muraca, Maurizio;
    • Dionisi-Vici, Carlo;
    • Bertucci, Pierfrancesco;
    • Strologo, Luca;
    • Emma, Francesco
    Publication type:
    Article
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    Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05851-6
    By:
    • Alioli, Candide;
    • Greco, Marcella;
    • Méaux, Marie-Noëlle;
    • Harambat, Jérome;
    • Topaloglu, Rezan;
    • Nobili, François;
    • Bertholet-Thomas, Aurélia;
    • Rousset-Rouviere, Caroline;
    • Portefaix, Aurélie;
    • Dumortier, Claire;
    • Emma, Francesco;
    • Machuca-Gayet, Irma;
    • Bacchetta, Justine
    Publication type:
    Article
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    Clinical and genetic characteristics of Dent's disease type 1 in Europe.

    Published in:
    Nephrology Dialysis Transplantation, 2023, v. 38, n. 6, p. 1497, doi. 10.1093/ndt/gfac310
    By:
    • Burballa, Carla;
    • Cantero-Recasens, Gerard;
    • Prikhodina, Larisa;
    • Lugani, Francesca;
    • Schlingmann, Karlpeter;
    • Ananin, Petr V;
    • Besouw, Martine;
    • Bockenhauer, Detlef;
    • Madariaga, Leire;
    • Bertholet-Thomas, Aurelia;
    • Taroni, Francesca;
    • Parolin, Mattia;
    • Conlon, Peter;
    • Emma, Francesco;
    • Prete, Dorella Del;
    • Chauveau, Dominique;
    • Koster-Kamphuis, Linda;
    • Fila, Marc;
    • Pasini, Andrea;
    • Castro, Isabel
    Publication type:
    Article
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    Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.

    Published in:
    Nephrology Dialysis Transplantation, 2021, v. 36, n. 9, p. 1585, doi. 10.1093/ndt/gfab171
    By:
    • Trepiccione, Francesco;
    • Walsh, Steven B;
    • Ariceta, Gema;
    • Boyer, Olivia;
    • Emma, Francesco;
    • Camilla, Roberta;
    • Ferraro, Pietro Manuel;
    • Haffner, Dieter;
    • Konrad, Martin;
    • Levtchenko, Elena;
    • Lopez-Garcia, Sergio Camilo;
    • Santos, Fernando;
    • Stabouli, Stella;
    • Szczepanska, Maria;
    • Tasic, Velibor;
    • Topaloglu, Rezan;
    • Vargas-Poussou, Rosa;
    • Wlodkowski, Tanja;
    • Bockenhauer, Detlef
    Publication type:
    Article
    10

    Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
    By:
    • Nuovo, Sara;
    • Fuiano, Laura;
    • Micalizzi, Alessia;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Borgatti, Renato;
    • Caridi, Gianluca;
    • D'Arrigo, Stefano;
    • Fazzi, Elisa;
    • Fischetto, Rita;
    • Ghiggeri, Gian Marco;
    • Giordano, Lucio;
    • Leuzzi, Vincenzo;
    • Romaniello, Romina;
    • Signorini, Sabrina;
    • Stringini, Gilda;
    • Zanni, Ginevra;
    • Romani, Marta;
    • Valente, Enza Maria;
    • Emma, Francesco
    Publication type:
    Article
    11

    Is there long-term value of pathology scoring in immunoglobulin A nephropathy? A validation study of the Oxford Classification for IgA Nephropathy (VALIGA) update.

    Published in:
    Nephrology Dialysis Transplantation, 2020, v. 35, n. 6, p. 1002, doi. 10.1093/ndt/gfy302
    By:
    • Coppo, Rosanna;
    • D'Arrigo, Graziella;
    • Tripepi, Giovanni;
    • Russo, Maria Luisa;
    • Roberts, Ian S D;
    • Bellur, Shubha;
    • Cattran, Daniel;
    • Cook, Terence H;
    • Feehally, John;
    • Tesar, Vladimir;
    • Maixnerova, Dita;
    • Peruzzi, Licia;
    • Amore, Alessandro;
    • Lundberg, Sigrid;
    • Palma, Anna Maria Di;
    • Gesualdo, Loreto;
    • Emma, Francesco;
    • Rollino, Cristiana;
    • Praga, Manuel;
    • Biancone, Luigi
    Publication type:
    Article
    12

    Treatment and long-term outcome in primary distal renal tubular acidosis.

    Published in:
    Nephrology Dialysis Transplantation, 2019, v. 34, n. 6, p. 981, doi. 10.1093/ndt/gfy409
    By:
    • Lopez-Garcia, Sergio Camilo;
    • Emma, Francesco;
    • Walsh, Stephen B;
    • Fila, Marc;
    • Hooman, Nakysa;
    • Zaniew, Marcin;
    • Bertholet-Thomas, Aurélia;
    • Colussi, Giacomo;
    • Burgmaier, Kathrin;
    • Levtchenko, Elena;
    • Sharma, Jyoti;
    • Singhal, Jyoti;
    • Soliman, Neveen A;
    • Ariceta, Gema;
    • Basu, Biswanath;
    • Murer, Luisa;
    • Tasic, Velibor;
    • Tsygin, Alexey;
    • Decramer, Stéphane;
    • Gil-Peña, Helena
    Publication type:
    Article
    13

    Outcome of childhood-onset full-house nephropathy.

    Published in:
    Nephrology Dialysis Transplantation, 2017, v. 32, n. 7, p. 1194, doi. 10.1093/ndt/gfw230
    By:
    • Ruggiero, Barbara;
    • Vivarelli, Marina;
    • Gianviti, Alessandra;
    • Pecoraro, Carmine;
    • Peruzzi, Licia;
    • Benetti, Elisa;
    • Ventura, Giovanna;
    • Pennesi, Marco;
    • Murer, Luisa;
    • Coppo, Rosanna;
    • Emma, Francesco
    Publication type:
    Article
    14

    Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.

    Published in:
    Nephrology Dialysis Transplantation, 2016, v. 31, n. 3, p. 337, doi. 10.1093/ndt/gfv456
    By:
    • Gansevoort, Ron T.;
    • Arici, Mustafa;
    • Benzing, Thomas;
    • Birn, Henrik;
    • Capasso, Giovambattista;
    • Covic, Adrian;
    • Devuyst, Olivier;
    • Drechsler, Christiane;
    • Eckardt, Kai-Uwe;
    • Emma, Francesco;
    • Knebelmann, Bertrand;
    • Meur, Yannick Le;
    • Massy, Ziad A.;
    • Ong, Albert C. M.;
    • Ortiz, Alberto;
    • Schaefer, Franz;
    • Torra, Roser;
    • Vanholder, Raymond;
    • Więcek, Andrzej;
    • Zoccali, Carmine
    Publication type:
    Article
    15

    Nephropathic cystinosis: an international consensus document.

    Published in:
    Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090
    By:
    • Emma, Francesco;
    • Nesterova, Galina;
    • Langman, Craig;
    • Labbé, Antoine;
    • Cherqui, Stephanie;
    • Goodyer, Paul;
    • Janssen, Mirian C.;
    • Greco, Marcella;
    • Topaloglu, Rezan;
    • Elenberg, Ewa;
    • Dohil, Ranjan;
    • Trauner, Doris;
    • Antignac, Corinne;
    • Cochat, Pierre;
    • Kaskel, Frederick;
    • Servais, Aude;
    • Wühl, Elke;
    • Niaudet, Patrick;
    • Van't Hoff, William;
    • Gahl, William
    Publication type:
    Article
    16

    Lupus nephritis in children and adolescents: results of the Italian Collaborative Study.

    Published in:
    Nephrology Dialysis Transplantation, 2013, v. 28, n. 6, p. 1487, doi. 10.1093/ndt/gfs589
    By:
    • Ruggiero, Barbara;
    • Vivarelli, Marina;
    • Gianviti, Alessandra;
    • Benetti, Elisa;
    • Peruzzi, Licia;
    • Barbano, Giancarlo;
    • Corona, Fabrizia;
    • Ventura, Giovanna;
    • Pecoraro, Carmine;
    • Murer, Luisa;
    • Ghiggeri, Gian Marco;
    • Pennesi, Marco;
    • Edefonti, Alberto;
    • Coppo, Rosanna;
    • Emma, Francesco
    Publication type:
    Article
    17

    The ERA-EDTA Working Group on inherited kidney disorders.

    Published in:
    Nephrology Dialysis Transplantation, 2012, v. 27, n. 1, p. 67, doi. 10.1093/ndt/gfr764
    By:
    • Devuyst, Olivier;
    • Antignac, Corinne;
    • Bindels, René J.M.;
    • Chauveau, Dominique;
    • Emma, Francesco;
    • Gansevoort, Ron;
    • Maxwell, Patrick H.;
    • Ong, Albert C.M.;
    • Remuzzi, Giuseppe;
    • Ronco, Pierre;
    • Schaefer, Franz
    Publication type:
    Article
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    XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 2, p. 1, doi. 10.1186/s13023-023-02883-3
    By:
    • Seefried, Lothar;
    • Alzahrani, Ali;
    • Arango Sancho, Pedro;
    • Bacchetta, Justine;
    • Crowley, Rachel;
    • Emma, Francesco;
    • Gibbins, Jonathan;
    • Grandone, Anna;
    • Javaid, Muhammad Kassim;
    • Mindler, Gabriel;
    • Raimann, Adalbert;
    • Rothenbuhler, Anya;
    • Tucker, Ian;
    • Zeitlin, Leonid;
    • Linglart, Agnès
    Publication type:
    Article
    21

    The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02882-4
    By:
    • Ariceta, Gema;
    • Beck-Nielsen, Signe Sparre;
    • Boot, Annemieke M.;
    • Brandi, Maria Luisa;
    • Briot, Karine;
    • de Lucas Collantes, Carmen;
    • Emma, Francesco;
    • Giannini, Sandro;
    • Haffner, Dieter;
    • Keen, Richard;
    • Levtchenko, Elena;
    • Mӓkitie, Outi;
    • Mughal, M. Zulf;
    • Nilsson, Ola;
    • Schnabel, Dirk;
    • Tripto-Shkolnik, Liana;
    • Liu, Jonathan;
    • Williams, Angela;
    • Wood, Sue;
    • Zillikens, M. Carola
    Publication type:
    Article
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    C3 glomerulopathy in children: a European longitudinal study evaluating outcome.

    Published in:
    Pediatric Nephrology, 2025, v. 40, n. 4, p. 979, doi. 10.1007/s00467-024-06587-z
    By:
    • Cappoli, Andrea;
    • Kersnik-Levart, Tanja;
    • Silecchia, Valeria;
    • Ariceta, Gema;
    • Gjerstad, Ann Christin;
    • Ghiggeri, Gianmarco;
    • Haffner, Dieter;
    • Kanzelmeyer, Nele;
    • Levtchenko, Elena;
    • Pasini, Andrea;
    • Waters, Aoife;
    • Aguilera, Juan Cruz Len;
    • Peruzzi, Licia;
    • Noris, Marina;
    • Bresin, Elena;
    • Gargiulo, Antonio;
    • Emma, Francesco;
    • Vivarelli, Marina
    Publication type:
    Article
    26

    Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.

    Published in:
    Pediatric Nephrology, 2024, v. 39, n. 10, p. 2861, doi. 10.1007/s00467-024-06345-1
    By:
    • Stabouli, Stella;
    • Sommer, Anna;
    • Kraft, Stefanie;
    • Schweer, Katharina;
    • Bethe, Dirk;
    • Bertholet-Thomas, Aurelia;
    • Batte, Suzanne;
    • Ariceta, Gema;
    • Brengmann, Sandra;
    • Bacchetta, Justine;
    • Emma, Francesco;
    • Levtchenko, Elena;
    • Topaloglu, Rezan;
    • Willem, Lore;
    • Haffner, Dieter;
    • Oh, Jun
    Publication type:
    Article
    27

    Childhood-onset IgA nephropathy: is long-term recovery possible?

    Published in:
    Pediatric Nephrology, 2024, v. 39, n. 6, p. 1837, doi. 10.1007/s00467-023-06259-4
    By:
    • Antonucci, Luca;
    • Fuiano, Laura;
    • Gargiulo, Antonio;
    • Gianviti, Alessandra;
    • Onetti Muda, Andrea;
    • Diomedi Camassei, Francesca;
    • Vivarelli, Marina;
    • Emma, Francesco
    Publication type:
    Article
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    Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.

    Published in:
    Pediatric Nephrology, 2023, v. 38, n. 5, p. 1499, doi. 10.1007/s00467-022-05762-4
    By:
    • Trautmann, Agnes;
    • Seide, Svenja;
    • Lipska-Ziętkiewicz, Beata S.;
    • Ozaltin, Fatih;
    • Szczepanska, Maria;
    • Azocar, Marta;
    • Jankauskiene, Augustina;
    • Zurowska, Alexandra;
    • Caliskan, Salim;
    • Saeed, Bassam;
    • Morello, William;
    • Emma, Francesco;
    • Litwin, Mieczyslaw;
    • Tsygin, Alexey;
    • Fomina, Svitlana;
    • Wasilewska, Anna;
    • Melk, Anette;
    • Benetti, Elisa;
    • Gellermann, Jutta;
    • Stajic, Natasa
    Publication type:
    Article
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    Immunology of idiopathic nephrotic syndrome.

    Published in:
    Pediatric Nephrology, 2018, v. 33, n. 4, p. 573, doi. 10.1007/s00467-017-3677-5
    By:
    • Colucci, Manuela;
    • Corpetti, Giorgia;
    • Emma, Francesco;
    • Vivarelli, Marina
    Publication type:
    Article
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    Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 347, doi. 10.4274/jcrpe.galenos.2020.2020.0064
    By:
    • Bizzarri, Carla;
    • Giannone, Germana Antonella;
    • Gervasoni, Jacopo;
    • Benedetti, Sabina;
    • Albanese, Federica;
    • Strologo, Luca Dello;
    • Guzzo, Isabella;
    • Mucciolo, Mafalda;
    • Camassei, Francesca Diomedi;
    • Emma, Francesco;
    • Cappa, Marco;
    • Porzio, Ottavia
    Publication type:
    Article
    46

    Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 3, doi. 10.1186/1471-2350-14-111
    By:
    • Storm, Tina;
    • Zeitz, Christina;
    • Cases, Olivier;
    • Amsellem, Sabine;
    • Verroust, Pierre J.;
    • Madsen, Mette;
    • Benoist, Jean-François;
    • Passemard, Sandrine;
    • Lebon, Sophie;
    • Jønsson, Iben Møller;
    • Emma, Francesco;
    • Koldsø, Heidi;
    • Hertz, Jens Michael;
    • Nielsen, Rikke;
    • Christensen, Erik I.;
    • Kozyraki, Renata
    Publication type:
    Article
    47

    A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
    By:
    • Zanni, Ginevra;
    • Kalscheuer, Vera M.;
    • Friedrich, Andreas;
    • Barresi, Sabina;
    • Alfieri, Paolo;
    • Di Capua, Matteo;
    • Haas, Stefan A.;
    • Piccini, Giorgia;
    • Karl, Thomas;
    • Klauck, Sabine M.;
    • Bellacchio, Emanuele;
    • Emma, Francesco;
    • Cappa, Marco;
    • Bertini, Enrico;
    • Breitenbach‐Koller, Lore
    Publication type:
    Article
    48

    MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

    Published in:
    Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
    By:
    • Brancati, Francesco;
    • Iannicelli, Miriam;
    • Travaglini, Lorena;
    • Mazzotta, Annalisa;
    • Bertini, Enrico;
    • Boltshauser, Eugen;
    • D'Arrigo, Stefano;
    • Emma, Francesco;
    • Fazzi, Elisa;
    • Gallizzi, Romina;
    • Gentile, Mattia;
    • Loncarevic, Damir;
    • Mejaski-Bosnjak, Vlatka;
    • Pantaleoni, Chiara;
    • Rigoli, Luciana;
    • Salpietro, Carmelo D.;
    • Signorini, Sabrina;
    • Stringini, Gilda Rita;
    • Verloes, Alain;
    • Zabloka, Dominika
    Publication type:
    Article
    49

    Genetic risk factors in typical haemolytic uraemic syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2009, v. 24, n. 6, p. 1851
    By:
    • Taranta, Anna;
    • Gianviti, Alessandra;
    • Palma, Alessia;
    • De Luca, Veronica;
    • Mannucci, Liliana;
    • Procaccino, Maria Antonietta;
    • Ghiggeri, Gian Marco;
    • Caridi, Gianluca;
    • Fruci, Doriana;
    • Ferracuti, Silvia;
    • Ferretti, Alfonso;
    • Pecoraro, Carmine;
    • Gaido, Maurizio;
    • Penza, Rosa;
    • Edefonti, Alberto;
    • Murer, Luisa;
    • Tozzi, Alberto E.;
    • Emma, Francesco
    Publication type:
    Article
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