1. AB0090 INHERITED DEFICIT OF PROTEOGLYCAN MIMICKING SEPTIC ARTHRITIS. (June 2019) Authors: Florio, Angelo; Papa, Riccardo; Caorsi, Roberta; Consolaro, Alessandro; Gastaldi, Roberto; Ravelli, Angelo; Gattorno, Marco; Picco, Paolo; Rinne, Tuula Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AB0974 A CASE OF ADENOSINE DEAMINASE 2 DEFICIENCY (DADA2) WITH AN UNCOMMON CLINICAL PRESENTATION AND RESPONSE TO IV IG. (June 2019) Authors: Garbarino, Francesca; Caorsi, Roberta; Volpi, Stefano; Grossi, Alice; Ceccherini, Isabella; Gattorno, Marco Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AB1035 MAFB-VARIANTS IN MULTICENTRIC CARPOTARSAL OSTEOLYSIS WITH NEPHROPATHY DO NOT SEEM TO AFFECT SERUM C1Q CONCENTRATION. (June 2019) Authors: Papa, Riccardo; Madeo, Annalisa; Volpi, Stefano; Caorsi, Roberta; Barbano, Giancarlo; Botto, Marina; Campos-Xavier, Belinda; Superti-Furga, Andrea; Gattorno, Marco; Rocco, Maja DI; Picco, Paolo Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1982 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. AB1063 INTERSTITIAL LUNG DISEASE IN A NEWBORN AFFECTED BY MEVALONIC ACIDURIA. (June 2019) Authors: Torreggiani, Sofia; Pietrasanta, Carlo; Minoia, Francesca; Filocamo, Giovanni; Ronchi, Andrea; Volpi, Stefano; Caorsi, Roberta; Gattorno, Marco; Caroli, Francesco; Grossi, Alice; Ceccherini, Isabella; Pugni, Lorenza; Mosca, Fabio Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Issue 10 (18th May 2017) Authors: Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Omenetti, Alessia; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Picco, Paolo; Tommasini, Alberto; Martino, Silvana; Malattia, Clara; Gallizi, Romina; Podda, Rosa Anna; Salis, Annalisa; Falcini, Fernanda; Schena, France... Journal: Annals of the rheumatic diseases Issue: Volume 76:Issue 10(2017) Page Start: 1648 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ADA2 deficiency due to a novel structural variation in 22q11.1. Issue 6 (28th March 2019) Authors: Grossi, Alice; Cusano, Roberto; Rusmini, Marta; Penco, Federica; Schena, Francesca; Podda, Rosa A.; Caorsi, Roberta; Gattorno, Marco; Uva, Paolo; Ceccherini, Isabella Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome. Issue 1 (29th July 2016) Authors: Torene, Rebecca; Nirmala, Nanguneri; Obici, Laura; Cattalini, Marco; Tormey, Vincent; Caorsi, Roberta; Starck-Schwertz, Sandrine; Letzkus, Martin; Hartmann, Nicole; Abrams, Ken; Lachmann, Helen; Gattorno, Marco Journal: Annals of the rheumatic diseases Issue: Volume 76:Issue 1(2017) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. Issue 1 (December 2016) Authors: Finetti, Martina; Omenetti, Alessia; Federici, Silvia; Caorsi, Roberta; Gattorno, Marco Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical data on how variants have affected multisystem inflammatory syndrome in children with COVID‐19 have been limited and conflicting. (8th November 2022) Authors: Bellini, Tommaso; Bustaffa, Marta; Caorsi, Roberta; Drago, Enrico; Mariani, Marcello; Piccotti, Emanuela Journal: Acta pædiatrica Issue: Volume 112:Number 1(2023) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Issue 12 (12th May 2012) Authors: Federici, Silvia; Calcagno, Giuseppina; Finetti, Martina; Gallizzi, Romina; Meini, Antonella; Vitale, Agata; Caroli, Francesco; Cattalini, Marco; Caorsi, Roberta; Zulian, Francesco; Tommasini, Alberto; Insalaco, Antonella; Sormani, Maria Pia; Baldi, Maurizia; Ceccherini, Isabella; Martini, Albert... Journal: Annals of the rheumatic diseases Issue: Volume 71:Issue 12(2012) Page Start: 1961 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗