Detalhe da pesquisa
1.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet
; 60(7): 722-731, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36543533
2.
Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices.
Intern Med J
; 54(6): 882-890, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38212950
3.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med
; 23(1): 183-191, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32939031
4.
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Mol Genet Metab
; 131(1-2): 219-228, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33012654
5.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Nephrol Dial Transplant
; 2020 Dec 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33367818
6.
Treatable lysosomal storage diseases in the advent of disease-specific therapy.
Intern Med J
; 50 Suppl 4: 5-27, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33210402
7.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27509102
8.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27834756
9.
Absence of renal phenotype in hereditary haemorrhagic telangiectasia.
Intern Med J
; 48(10): 1255-1257, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30288899
10.
Fabry in the older patient: Clinical consequences and possibilities for treatment.
Mol Genet Metab
; 118(4): 319-25, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27221354
11.
Granulomatosis with polyangiitis complicated by genital involvement: sustained response to rituximab.
Intern Med J
; 51(3): 444-445, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33738952
12.
Lipiduria--with special relevance to Fabry disease.
Clin Chem Lab Med
; 53 Suppl 2: s1465-70, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26124059
13.
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
Am J Med Genet A
; 179(6): 1069-1073, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30920142
14.
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Diseases
; 12(5)2024 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38785757
15.
Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patients.
J Inherit Metab Dis
; 35(5): 885-9, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22167276
16.
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Orphanet J Rare Dis
; 17(1): 42, 2022 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35135579
17.
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
J Clin Med
; 11(16)2022 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36013057
18.
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
Inglês
| MEDLINE | ID: mdl-35725623
19.
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.
Mol Genet Metab Rep
; 25: 100670, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33163363
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
Inglês
| MEDLINE | ID: mdl-33039984