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Page 1
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation.
Corti P, Peters C, Balduzzi A, Bertagnolio B, Biondi A, Bugarin C, Dassi M, Furlan F, Gaipa G, Longoni D, Maglia O, Parini R, Perseghin P, Uderzo C, Uziel G, Masera G, Rovelli A. Corti P, et al. Among authors: parini r. Br J Haematol. 2005 Jul;130(2):249-55. doi: 10.1111/j.1365-2141.2005.05585.x. Br J Haematol. 2005. PMID: 16029453 Free article.
The Fanconi-Bickel syndrome: a case of neonatal onset.
Riva S, Ghisalberti C, Parini R, Furlan F, Bettinelli A, Somaschini M. Riva S, et al. Among authors: parini r. J Perinatol. 2004 May;24(5):322-3. doi: 10.1038/sj.jp.7211092. J Perinatol. 2004. PMID: 15116130
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: parini r. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.
Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ. Aldenhoven M, et al. Among authors: parini r. Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26. Blood. 2015. PMID: 25624320 Free article.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Pichiecchio A, et al. Among authors: parini r. Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9. Muscle Nerve. 2017. PMID: 27668838
Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M. Parini R, et al. Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. Orphanet J Rare Dis. 2017. PMID: 28619065 Free PMC article. Review.
198 results