Detalhe da pesquisa
1.
Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing.
Mol Genet Metab
; 134(1-2): 117-131, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340879
2.
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Value Health
; 24(2): 268-273, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33518033
3.
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Hum Mol Genet
; 26(6): 1182-1192, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158561
4.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
J Med Genet
; 55(5): 351-358, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437868
5.
Corrigendum to "Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing" [2021 Sep-Oct;134(1-2):117-131].
Mol Genet Metab
; 139(1): 107541, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849293
6.
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney Int
; 91(2): 284-293, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27998644
7.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
Mol Genet Metab
; 114(2): 242-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25187469
8.
Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy.
Bioanalysis
; 15(23): 1421-1437, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37847061
9.
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
Orphanet J Rare Dis
; 18(1): 332, 2023 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865771
10.
Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease.
Mol Ther Methods Clin Dev
; 28: 262-271, 2023 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36816757
11.
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
J Clin Med
; 11(16)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013057
12.
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Orphanet J Rare Dis
; 17(1): 42, 2022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35135579
13.
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Orphanet J Rare Dis
; 17(1): 238, 2022 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725623
14.
Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.
Can J Kidney Health Dis
; 8: 20543581211058931, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34840803
15.
The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
Drugs R D
; 21(4): 385-397, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34542871
16.
Lentivirus-mediated gene therapy for Fabry disease.
Nat Commun
; 12(1): 1178, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633114
17.
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.
Genet Med
; 12(11): 668-79, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20962662
18.
Therapeutic goals in the treatment of Fabry disease.
Genet Med
; 12(11): 713-20, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20975569
19.
Renal-Limited Antiglomerular Basement Membrane Disease Related To Alemtuzumab: A Case Report.
Can J Kidney Health Dis
; 7: 2054358120962680, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33117548
20.
Use of denosumab to treat refractory hypercalcemia in a peritoneal dialysis patient with immobilization and tertiary hyperparathyroidism.
Perit Dial Int
; 40(1): 103-106, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063140