Detalhe da pesquisa
1.
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology.
Int J Mol Sci
; 24(13)2023 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446383
2.
Pathology and pathogenic pathways in fabry nephropathy.
Clin Exp Nephrol
; 25(9): 925-934, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33768330
3.
Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis.
Mol Genet Metab
; 129(2): 132-141, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31718986
4.
CRISPR/Cas9 Editing for Gaucher Disease Modelling.
Int J Mol Sci
; 21(9)2020 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32380730
5.
A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.
Calcif Tissue Int
; 104(6): 650-657, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30790003
6.
Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
J Stroke Cerebrovasc Dis
; 27(3): 575-582, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29132836
7.
Contribution of inflammatory pathways to Fabry disease pathogenesis.
Mol Genet Metab
; 122(3): 19-27, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947349
8.
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.
Int J Mol Sci
; 18(1)2017 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28098793
9.
Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.
Echocardiography
; 32(5): 860-3, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684266
10.
The role of tubular cells in the pathogenesis of Fabry nephropathy.
Front Cardiovasc Med
; 11: 1386042, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38646152
11.
Pathogenic pathways of renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis.
J Nephrol
; 37(3): 625-634, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38512375
12.
Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide.
Mol Genet Metab
; 109(1): 93-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23452955
13.
Two-dimensional speckle tracking echocardiography for early detection of myocardial damage in young patients with Fabry disease.
Echocardiography
; 30(9): 1069-77, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23600802
14.
[Guidelines for diagnosis, monitoring and treatment of Fabry disease]. / Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry.
Medicina (B Aires)
; 73(5): 482-94, 2013.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24152410
15.
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
Front Genet
; 13: 1053559, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568372
16.
Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.: effect of globotriaosylceramide.
Mol Genet Metab
; 104(3): 319-24, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21724436
17.
Major cardiovascular adverse events in Fabry disease patients receiving agalsidase alfa.
Medicina (B Aires)
; 81(2): 173-179, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906135
18.
Early diagnosis of Gaucher disease based on bone symptoms / Diagnóstico temprano de enfermedad de Gaucher mediante detección de manifestaciones óseas.
Medicina (B Aires)
; 80(5): 487-494, 2020.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33048793
19.
Upregulation of ASIC1a channels in an in vitro model of Fabry disease.
Neurochem Int
; 140: 104824, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32841711
20.
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative.
BMJ Open
; 10(10): e035182, 2020 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33039984