Detalhe da pesquisa
1.
Fabry Disease and the Heart: A Comprehensive Review.
Int J Mol Sci
; 22(9)2021 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922740
2.
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Am Heart J
; 226: 114-126, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531501
3.
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Mol Genet Metab
; 129(2): 150-160, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519519
4.
Fabry Disease Therapy: State-of-the-Art and Current Challenges.
Int J Mol Sci
; 22(1)2020 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33379210
5.
p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
Cardiology
; 144(3-4): 125-130, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634893
6.
High-Resolution Seismocardiogram Acquisition and Analysis System.
Sensors (Basel)
; 18(10)2018 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322147
7.
New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study.
Mol Genet Metab
; 121(2): 162-169, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28526293
8.
Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease.
Cardiology
; 137(2): 67-73, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28152533
9.
Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement: a novel splice site mutation in the DSG2 gene.
Cardiology
; 130(3): 159-61, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25660657
10.
Inflammation and Exosomes in Fabry Disease Pathogenesis.
Cells
; 13(8)2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38667269
11.
Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease.
Mol Genet Metab
; 108(4): 241-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23433711
12.
Challenges in Fabry disease: the combination of two individually amenable GLA variants may be nonamenable to migalastat.
Future Cardiol
; 19(1): 39-43, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695159
13.
Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation, different phenotype.
Rev Port Cardiol
; 41(3): 253-259, 2022 Mar.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-36062655
14.
Sex Differences in the Individual Behaviour of Bait-Attracted White Sharks (Carcharodon carcharias, Linnaeus, 1758) Are Linked to Different Environmental Factors in South Africa.
Biology (Basel)
; 11(12)2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36552245
15.
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Rev Esp Cardiol (Engl Ed)
; 75(3): 242-250, 2022 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-33642254
16.
Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?
Cardiology
; 119(3): 155-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21952291
17.
Cerium uptake, translocation and toxicity in the salt marsh halophyte Halimione portulacoides (L.), Aellen.
Chemosphere
; 266: 128973, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33250233
18.
Tissue and gender-related differences in the elemental composition of juvenile ocean sunfish (Mola spp.).
Chemosphere
; 272: 129131, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33592516
19.
Screening of Fabry Disease in Patients with Chest Pain Without Obstructive Coronary Artery Disease.
J Cardiovasc Transl Res
; 14(5): 948-950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474682
20.
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA.
Cardiology
; 115(1): 71-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19864902