Ceci R - Search Results

1

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Amartino H, Ceci R, Masllorens F, Gal A, Arberas C, Bay L, Ilari R, Dipierri J, Specola N, Cabrera A, Rozenfeld P. Amartino H, et al. Among authors: ceci r. Mol Genet Metab Rep. 2014 Sep 17;1:401-406. doi: 10.1016/j.ymgmr.2014.08.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896113 Free PMC article.

2

An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring.

Rozenfeld PA, De Francesco NP, Borrajo GJ, Ceci R, Fossati CA. Rozenfeld PA, et al. Among authors: ceci r. Clin Chim Acta. 2009 May;403(1-2):194-7. doi: 10.1016/j.cca.2009.02.016. Epub 2009 Mar 4. Clin Chim Acta. 2009. PMID: 19268437

3

Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.: effect of globotriaosylceramide.

De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. De Francesco PN, et al. Among authors: ceci r. Mol Genet Metab. 2011 Nov;104(3):319-24. doi: 10.1016/j.ymgme.2011.06.007. Epub 2011 Jun 16. Mol Genet Metab. 2011. PMID: 21724436

4

Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-α.

Mucci JM, Scian R, De Francesco PN, García FS, Ceci R, Fossati CA, Delpino MV, Rozenfeld PA. Mucci JM, et al. Among authors: ceci r. Gene. 2012 Nov 1;509(1):51-9. doi: 10.1016/j.gene.2012.07.071. Epub 2012 Aug 6. Gene. 2012. PMID: 23010424

5

Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide.

De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. De Francesco PN, et al. Among authors: ceci r. Mol Genet Metab. 2013 May;109(1):93-9. doi: 10.1016/j.ymgme.2013.02.003. Epub 2013 Feb 13. Mol Genet Metab. 2013. PMID: 23452955

6

Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease.

Mucci JM, Suqueli García F, de Francesco PN, Ceci R, Di Genaro S, Fossati CA, Delpino MV, Rozenfeld PA. Mucci JM, et al. Among authors: ceci r. Gene. 2013 Dec 15;532(2):186-91. doi: 10.1016/j.gene.2013.09.072. Epub 2013 Sep 26. Gene. 2013. PMID: 24076352

7

[Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Consenso de Médicos de AADELFA y GADYTEF; Neumann P, Antongiovanni N, Fainboim A, Kisinovsky I, Amartino H, Cabrera G, Carmona S, Ceci R, Cicerán A, Choua M, Doxastakis G, De Maio S, Ebner R, Escobar AM, Ferrari G, Forrester M, Guelbert N, Luna P, Marchesoni C, Masllorens F, Politei J, Reisin R, Ripeau D, Rozenfeld P, Serebrinsky G, Tarabuso AL, Trípoli J. Consenso de Médicos de AADELFA y GADYTEF, et al. Among authors: ceci r. Medicina (B Aires). 2013;73(5):482-94. Medicina (B Aires). 2013. PMID: 24152410 Free article. Spanish.

8

In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase.

Bondar C, Mucci J, Crivaro A, Ormazabal M, Ceci R, Oliveri B, González D, Rozenfeld P. Bondar C, et al. Among authors: ceci r. Bone. 2017 Oct;103:262-269. doi: 10.1016/j.bone.2017.07.020. Epub 2017 Jul 20. Bone. 2017. PMID: 28736246

9

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease.

Crivaro AN, Mucci JM, Bondar CM, Ormazabal ME, Ceci R, Simonaro C, Rozenfeld PA. Crivaro AN, et al. Among authors: ceci r. PLoS One. 2019 May 31;14(5):e0217780. doi: 10.1371/journal.pone.0217780. eCollection 2019. PLoS One. 2019. PMID: 31150494 Free PMC article.

10

Fabry pedigree analysis: A successful program for targeted genetic approach.

Rozenfeld PA, Masllorens FM, Roa N, Rodriguez F, Bonnano M, Yvorra C, Ceci R. Rozenfeld PA, et al. Among authors: ceci r. Mol Genet Genomic Med. 2019 Jul;7(7):e00794. doi: 10.1002/mgg3.794. Epub 2019 Jun 6. Mol Genet Genomic Med. 2019. PMID: 31169365 Free PMC article.

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