Detalhe da pesquisa
1.
Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study.
Mol Genet Metab
; 140(3): 107692, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37703724
2.
Treatment switch in Fabry disease- a matter of dose?
J Med Genet
; 58(5): 342-350, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32522756
3.
Precision medicine in Fabry disease.
Nephrol Dial Transplant
; 36(Suppl 2): 14-23, 2021 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34153986
4.
Generation and Characterization of a Polyclonal Human Reference Antibody to Measure Anti-Drug Antibody Titers in Patients with Fabry Disease.
Int J Mol Sci
; 22(5)2021 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33800950
5.
α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes.
Int J Mol Sci
; 22(21)2021 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34768768
6.
FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in Fabry patients.
Mol Genet Metab
; 129(2): 142-149, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31879214
7.
Detailed epitope mapping of neutralizing anti-drug antibodies against recombinant α-galactosidase A in patients with Fabry disease.
Mol Genet Metab
; 131(1-2): 229-234, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32888778
8.
Soluble adenylyl cyclase (sAC) regulates calcium signaling in the vascular endothelium.
FASEB J
; 33(12): 13762-13774, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31585052
9.
Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity.
J Inherit Metab Dis
; 43(2): 334-347, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31587315
10.
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study-determination of immunogenicity.
J Med Genet
; 61(6): 531-533, 2024 May 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38538083
11.
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
J Med Genet
; 56(8): 548-556, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31010832
12.
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Int J Mol Sci
; 21(16)2020 Aug 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32806627
13.
Effects of high-intensity interval training on microvascular glycocalyx and associated microRNAs.
Am J Physiol Heart Circ Physiol
; 316(6): H1538-H1551, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30978133
14.
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol
; 29(12): 2879-2889, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30385651
15.
Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.
Nephrol Dial Transplant
; 33(8): 1362-1372, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29186537
16.
Salt-induced Na+/K+-ATPase-α/ß expression involves soluble adenylyl cyclase in endothelial cells.
Pflugers Arch
; 469(10): 1401-1412, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28550472
17.
Renal function predicts long-term outcome on enzyme replacement therapy in patients with Fabry disease.
Nephrol Dial Transplant
; 32(12): 2090-2097, 2017 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27679524
18.
Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.
J Am Soc Nephrol
; 27(1): 256-64, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25933799
19.
Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.
J Am Soc Nephrol
; 27(3): 952-62, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26185201
20.
Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease.
Gastroenterology
; 159(4): 1602-1604, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32534932