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Items: 1 to 20 of 30

1.

Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis.

Rozenfeld PA, de Los Angeles Bolla M, Quieto P, Pisani A, Feriozzi S, Neuman P, Bondar C.

Mol Genet Metab. 2020 Feb;129(2):132-141. doi: 10.1016/j.ymgme.2019.10.010. Epub 2019 Oct 30.

PMID:
31718986
2.

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

Rozenfeld PA, Masllorens FM, Roa N, Rodriguez F, Bonnano M, Yvorra C, Ceci R.

Mol Genet Genomic Med. 2019 Jul;7(7):e00794. doi: 10.1002/mgg3.794. Epub 2019 Jun 6.

3.

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.

PLoS One. 2019 May 31;14(5):e0217780. doi: 10.1371/journal.pone.0217780. eCollection 2019.

4.

A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.

Oliveri B, González D, Quiroga F, Silva C, Rozenfeld P.

Calcif Tissue Int. 2019 Jun;104(6):650-657. doi: 10.1007/s00223-019-00536-x. Epub 2019 Feb 21.

PMID:
30790003
5.

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

Reisin RC, Mazziotti J, Cejas LL, Zinnerman A, Bonardo P, Pardal MF, Martínez A, Riccio P, Ameriso S, Bendersky E, Nofal P, Cairola P, Jure L, Sotelo A, Rozenfeld P, Ceci R, Casas-Parera I, Sánchez-Luceros A; AISYF Investigators.

J Stroke Cerebrovasc Dis. 2018 Mar;27(3):575-582. doi: 10.1016/j.jstrokecerebrovasdis.2017.09.045. Epub 2017 Nov 11.

PMID:
29132836
6.

Contribution of inflammatory pathways to Fabry disease pathogenesis.

Rozenfeld P, Feriozzi S.

Mol Genet Metab. 2017 Nov;122(3):19-27. doi: 10.1016/j.ymgme.2017.09.004. Epub 2017 Sep 13. Review.

7.

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.

Bone. 2017 Oct;103:262-269. doi: 10.1016/j.bone.2017.07.020. Epub 2017 Jul 20.

PMID:
28736246
8.

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.

Bay L, Canero Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, Fassio E, Galoppo M, Pinero F, Rozenfeld P.

Arch Argent Pediatr. 2017 Jun 1;115(3):287-293. doi: 10.5546/aap.2017.eng.287. Review. English, Spanish.

9.

Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.

Bondar C, Ormazabal M, Crivaro A, Ferreyra-Compagnucci M, Delpino MV, Rozenfeld PA, Mucci JM.

Int J Mol Sci. 2017 Jan 13;18(1). pii: E112. doi: 10.3390/ijms18010112.

10.

Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.

Mucci JM, Cuello MF, Kisinovsky I, Larroude M, Delpino MV, Rozenfeld PA.

Blood Cells Mol Dis. 2015 Aug;55(2):134-43. doi: 10.1016/j.bcmd.2015.05.009. Epub 2015 May 27.

PMID:
26142329
11.

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.

Mucci JM, Rozenfeld P.

J Immunol Res. 2015;2015:192761. doi: 10.1155/2015/192761. Epub 2015 May 3. Review.

12.

Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.

Cianciulli TF, Saccheri MC, Fernández SP, Fernández CC, Rozenfeld PA, Kisinovsky I.

Echocardiography. 2015 May;32(5):860-3. doi: 10.1111/echo.12900. Epub 2015 Feb 13.

PMID:
25684266
13.

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.

Mol Genet Metab Rep. 2014 Sep 17;1:401-406. eCollection 2014.

14.

[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.

Medicina (B Aires). 2013;73(5):482-94. Spanish.

15.

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.

Gene. 2013 Dec 15;532(2):186-91. doi: 10.1016/j.gene.2013.09.072. Epub 2013 Sep 26.

PMID:
24076352
16.

Two-dimensional speckle tracking echocardiography for early detection of myocardial damage in young patients with Fabry disease.

Saccheri MC, Cianciulli TF, Lax JA, Gagliardi JA, Cáceres GL, Quarin AE, Kisinovsky I, Rozenfeld PA, Reisin RC; AADELFA.

Echocardiography. 2013 Oct;30(9):1069-77. doi: 10.1111/echo.12216. Epub 2013 Apr 19.

PMID:
23600802
17.

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

De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA.

Mol Genet Metab. 2013 May;109(1):93-9. doi: 10.1016/j.ymgme.2013.02.003. Epub 2013 Feb 13.

PMID:
23452955
18.

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.

Gene. 2012 Nov 1;509(1):51-9. doi: 10.1016/j.gene.2012.07.071. Epub 2012 Aug 6.

PMID:
23010424
19.

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

De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA.

Mol Genet Metab. 2011 Nov;104(3):319-24. doi: 10.1016/j.ymgme.2011.06.007. Epub 2011 Jun 16.

PMID:
21724436
20.

Recent advances in treatment approaches of lysosomal storage diseases (LSDs).

Rozenfeld PA.

Curr Pharm Biotechnol. 2011 Jun;12(6):853. No abstract available.

PMID:
21506916

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