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Year Number of Results
1988 1
1991 2
1992 1
1993 1
1994 4
1995 3
1996 1
1997 4
1998 2
1999 1
2000 1
2001 4
2002 6
2003 6
2004 3
2005 11
2006 8
2007 5
2008 8
2009 11
2010 9
2011 4
2012 12
2013 5
2014 13
2015 9
2016 6
2017 11
2018 10
2019 8
2020 6
2021 3
2022 1
2023 1
2024 1
2025 0

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161 results

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Page 1
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: bembi b. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
Gaucher disease and bone manifestations.
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML. Marcucci G, et al. Among authors: bembi b. Calcif Tissue Int. 2014 Dec;95(6):477-94. doi: 10.1007/s00223-014-9923-y. Epub 2014 Nov 7. Calcif Tissue Int. 2014. PMID: 25377906 Review.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cassiman D, et al. Among authors: bembi b. Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Mol Genet Metab. 2016. PMID: 27198631 Free article. Review.
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.
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D, Belmatoug N, Bembi B, Deegan P, Fernandez-Sasso D, Giraldo P, Göker-Alpan Ö, Hughes D, Lau H, Lukina E, Revel-Vilk S, Schwartz IVD, Istaiti M, Botha J, Gadir N, Schenk J, Zimran A; GOS Study Group. Elstein D, et al. Among authors: bembi b. J Clin Med. 2024 Jun 19;13(12):3588. doi: 10.3390/jcm13123588. J Clin Med. 2024. PMID: 38930117 Free PMC article.
Management and treatment 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):S12-36. doi: 10.1212/WNL.0b013e31818da93f. Neurology. 2008. PMID: 19047571 Review.
microRNAs as biomarkers in Pompe disease.
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. Tarallo A, et al. Among authors: bembi b. Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997386 Free article.
161 results