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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Salvatore M, et al. Among authors: bembi b. Ital J Pediatr. 2020 Sep 14;46(1):130. doi: 10.1186/s13052-020-00883-8. Ital J Pediatr. 2020. PMID: 32928283 Free PMC article.
The Italian National Rare Diseases Registry.
Taruscio D, Kodra Y, Ferrari G, Vittozzi L; National Rare Diseases Registry Collaborating Group. Taruscio D, et al. Blood Transfus. 2014 Apr;12 Suppl 3(Suppl 3):s606-13. doi: 10.2450/2014.0064-14s. Blood Transfus. 2014. PMID: 24922301 Free PMC article.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Among authors: bembi b. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A. Romanello M, et al. Among authors: bembi b. Clin Chim Acta. 2016 Apr 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11. Clin Chim Acta. 2016. PMID: 26790753
Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Valent F, Deroma L, Moro A, Ciana G, Martina P, De Martin F, Michelesio E, Da Riol MR, Macor D, Bembi B; Rare Disease Network of the Friuli Venezia Giulia Region. Valent F, et al. Among authors: bembi b. Value Health. 2019 Sep;22(9):1003-1011. doi: 10.1016/j.jval.2019.04.1917. Epub 2019 May 24. Value Health. 2019. PMID: 31511176 Free article.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: bembi b. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Among authors: bembi b. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
Diagnosis of glycogenosis type II.
Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Bembi B, et al. Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Neurology. 2008. PMID: 19047572 Review.
161 results