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147 results

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Page 1
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Among authors: rovelli a. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases.
Gaipa G, Dassi M, Perseghin P, Venturi N, Corti P, Bonanomi S, Balduzzi A, Longoni D, Uderzo C, Biondi A, Masera G, Parini R, Bertagnolio B, Uziel G, Peters C, Rovelli A. Gaipa G, et al. Among authors: rovelli a. Bone Marrow Transplant. 2003 May;31(10):857-60. doi: 10.1038/sj.bmt.1704024. Bone Marrow Transplant. 2003. PMID: 12748661
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure.
Boelens JJ, Wynn RF, O'Meara A, Veys P, Bertrand Y, Souillet G, Wraith JE, Fischer A, Cavazzana-Calvo M, Sykora KW, Sedlacek P, Rovelli A, Uiterwaal CS, Wulffraat N. Boelens JJ, et al. Among authors: rovelli a. Bone Marrow Transplant. 2007 Aug;40(3):225-33. doi: 10.1038/sj.bmt.1705718. Epub 2007 May 28. Bone Marrow Transplant. 2007. PMID: 17529997 Free PMC article.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: rovelli a. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
Fernandes JF, Rocha V, Labopin M, Neven B, Moshous D, Gennery AR, Friedrich W, Porta F, Diaz de Heredia C, Wall D, Bertrand Y, Veys P, Slatter M, Schulz A, Chan KW, Grimley M, Ayas M, Gungor T, Ebell W, Bonfim C, Kalwak K, Taupin P, Blanche S, Gaspar HB, Landais P, Fischer A, Gluckman E, Cavazzana-Calvo M; Eurocord and Inborn Errors Working Party of European Group for Blood and Marrow Transplantation. Fernandes JF, et al. Blood. 2012 Mar 22;119(12):2949-55. doi: 10.1182/blood-2011-06-363572. Epub 2012 Feb 3. Blood. 2012. PMID: 22308292 Free article.
Defibrotide for prophylaxis of hepatic veno-occlusive disease in paediatric haemopoietic stem-cell transplantation: an open-label, phase 3, randomised controlled trial.
Corbacioglu S, Cesaro S, Faraci M, Valteau-Couanet D, Gruhn B, Rovelli A, Boelens JJ, Hewitt A, Schrum J, Schulz AS, Müller I, Stein J, Wynn R, Greil J, Sykora KW, Matthes-Martin S, Führer M, O'Meara A, Toporski J, Sedlacek P, Schlegel PG, Ehlert K, Fasth A, Winiarski J, Arvidson J, Mauz-Körholz C, Ozsahin H, Schrauder A, Bader P, Massaro J, D'Agostino R, Hoyle M, Iacobelli M, Debatin KM, Peters C, Dini G. Corbacioglu S, et al. Among authors: rovelli a. Lancet. 2012 Apr 7;379(9823):1301-9. doi: 10.1016/S0140-6736(11)61938-7. Epub 2012 Feb 23. Lancet. 2012. PMID: 22364685 Clinical Trial.
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Filosto M, Scarpelli M, Tonin P, Lucchini G, Pavan F, Santus F, Parini R, Donati MA, Cotelli MS, Vielmi V, Todeschini A, Canonico F, Tomelleri G, Padovani A, Rovelli A. Filosto M, et al. Among authors: rovelli a. J Neurol. 2012 Dec;259(12):2699-706. doi: 10.1007/s00415-012-6572-9. Epub 2012 Jun 19. J Neurol. 2012. PMID: 22711161
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning.
Boelens JJ, Aldenhoven M, Purtill D, Ruggeri A, Defor T, Wynn R, Wraith E, Cavazzana-Calvo M, Rovelli A, Fischer A, Tolar J, Prasad VK, Escolar M, Gluckman E, O'Meara A, Orchard PJ, Veys P, Eapen M, Kurtzberg J, Rocha V; Eurocord; Inborn Errors Working Party of European Blood and Marrow Transplant group; Duke University Blood and Marrow Transplantation Program; Centre for International Blood and Marrow Research. Boelens JJ, et al. Among authors: rovelli a. Blood. 2013 May 9;121(19):3981-7. doi: 10.1182/blood-2012-09-455238. Epub 2013 Mar 14. Blood. 2013. PMID: 23493783 Free PMC article.
147 results