Detalles de la búsqueda
1.
Soluble mannose receptor: A potential biomarker in Gaucher disease.
Eur J Haematol
; 112(5): 794-801, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38200687
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36543533
3.
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.
J Med Genet
; 2023 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37940383
4.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27509102
5.
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Genet Med
; 21(9): 1987-1997, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30723321
6.
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.
Mol Genet Metab
; 126(3): 224-235, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30413388
7.
Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.
J Neurol Neurosurg Psychiatry
; 90(10): 1091-1097, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31221723
8.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
J Med Genet
; 55(5): 351-358, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29437868
9.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30414226
10.
The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Mol Genet Metab
; 123(2): 154-158, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29055531
11.
Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.
Mol Genet Metab
; 124(4): 278-286, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29934064
12.
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Mol Genet Metab
; 123(2): 127-134, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29248359
13.
European expert consensus statement on therapeutic goals in Fabry disease.
Mol Genet Metab
; 124(3): 189-203, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30017653
14.
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
J Inherit Metab Dis
; 41(1): 141-149, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29039131
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834756
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27998644
17.
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
Mol Genet Metab
; 121(2): 157-161, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28495078
18.
Fabry in the older patient: Clinical consequences and possibilities for treatment.
Mol Genet Metab
; 118(4): 319-25, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27221354
19.
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Mol Genet Metab
; 119(1-2): 131-43, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27380995
20.
Fabry disease: will markers of early disease enable early treatment and better outcomes?
Curr Opin Cardiol
; 31(4): 434-9, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27205888