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Page 1
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review.
Fratini ES, Migliavacca M, Barzaghi F, Fossati C, Giannelli S, Monti I, Casiraghi M, Ferrua F, Recupero S, Consiglieri G, Calbi V, Tucci F, Gallo V, Bernardo ME, Cenciarelli S, Palmoni M, Moni M, Galimberti L, Duse M, Leonardi L, Sieni E, Soncini E, Porta F, Notarangelo LD, De Santis R, Ladogana S, Aiuti A, Cicalese MP. Fratini ES, et al. Among authors: porta f. Front Immunol. 2023 Jun 26;14:1187959. doi: 10.3389/fimmu.2023.1187959. eCollection 2023. Front Immunol. 2023. PMID: 37435083 Free PMC article. Review.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M, Barzaghi F, Fossati C, Rancoita PMV, Gabaldo M, Dionisio F, Giannelli S, Salerio FA, Ferrua F, Tucci F, Calbi V, Gallo V, Recupero S, Consiglieri G, Pajno R, Sambuco M, Priolo A, Ferri C, Garella V, Monti I, Silvani P, Darin S, Casiraghi M, Corti A, Zancan S, Levi M, Cesana D, Carlucci F, Pituch-Noworolska A, AbdElaziz D, Baumann U, Finocchi A, Cancrini C, Ladogana S, Meinhardt A, Meyts I, Montin D, Notarangelo LD, Porta F, Pasquet M, Speckmann C, Stepensky P, Tommasini A, Rabusin M, Karakas Z, Galicchio M, Leonardi L, Duse M, Guner SN, Di Serio C, Ciceri F, Bernardo ME, Aiuti A, Cicalese MP. Migliavacca M, et al. Among authors: porta f. Nat Med. 2024 Feb;30(2):488-497. doi: 10.1038/s41591-023-02789-4. Epub 2024 Feb 14. Nat Med. 2024. PMID: 38355973 Free PMC article.
Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Dotta L, Baresi G, Tamassia N, Calzetti F, Bianchetto-Aguilera F, Gasperini S, Gardiman E, Chiarini M, Moratto D, Martellosio G, Serana F, Micheletti M, Tregambe D, Pintabona V, Soncini E, Meini A, Girelli MF, Beghin A, Lanfranchi A, Bugatti M, Brugnoni D, Soresina A, Plebani A, Cassatella M, Vermi W, Porta F, Badolato R. Dotta L, et al. Among authors: porta f. Pediatr Blood Cancer. 2023 Dec;70(12):e30671. doi: 10.1002/pbc.30671. Epub 2023 Sep 15. Pediatr Blood Cancer. 2023. PMID: 37712719
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A, Di Rocco M, Venturelli F, Tappino B, Morello W, Santoro N, Giordano P, Filippini B, Rinieri S, Russo G, Girardi K, Ruggiero A, Galea E, Antonucci R, Tovaglieri N, Porta F, Tartaglione I, Giona F, Fagioli F, Burlina A; Pediatric Gaucher Study Group. Pession A, et al. Among authors: porta f. Orphanet J Rare Dis. 2023 Jun 16;18(1):151. doi: 10.1186/s13023-023-02760-z. Orphanet J Rare Dis. 2023. PMID: 37328863 Free PMC article.
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.
Bhattad S, Mohite RS, Singh N, Kotecha U, Jhawar P, Ramprakash S, Commondoor R, Jayaram A, Rayabarapu P, Kumar H, Unni J, Cyril G, Kumar S, Pachat D, Jakka S, Makam A, Porta F, Ginigeri C. Bhattad S, et al. Among authors: porta f. Clin Exp Med. 2023 Dec;23(8):5399-5412. doi: 10.1007/s10238-023-01225-8. Epub 2023 Oct 28. Clin Exp Med. 2023. PMID: 37898571
Italian pediatric intensive care units admitting critically ill cancer children: results from a national survey.
Martinato M, Comoretto RI, Biban P, Zanonato E, Simonini A, Montaguti A, Gitto E, Caramelli F, Ferrario S, Sagredini R, Alaimo N, Zito Marinosci G, Rossetti E, Cecchetti C, L'erario M, Vasile B, Ivani G, Bonanomi E, Astuto M, Gregori D, Mondardini MC, Amigoni A; OncoTIPnet Study Group. Martinato M, et al. Minerva Anestesiol. 2023 Oct;89(10):850-858. doi: 10.23736/S0375-9393.23.17329-9. Epub 2023 Jun 28. Minerva Anestesiol. 2023. PMID: 37378625
Comparing the different sets of item-diagnostic criteria of the Coma Recovery Scale-Revised (CRS-R): a measurement-based approach driven by Rasch analysis.
Caselli S, Leonardi M, Magnani FG, Cacciatore M, Barbadoro F, Ippoliti C, Kreiner S, Pellicciari L, La Porta F. Caselli S, et al. Among authors: la porta f. Arch Phys Med Rehabil. 2024 Dec 18:S0003-9993(24)01406-0. doi: 10.1016/j.apmr.2024.12.009. Online ahead of print. Arch Phys Med Rehabil. 2024. PMID: 39706237 Free article.
522 results