Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
2.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab
; 138(2): 106963, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481125
3.
Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.
Haematologica
; 106(2): 437-445, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001533
4.
Atypical presentation of late-onset Sandhoff disease: a case report.
Ideggyogy Sz
; 74(11-12): 425-429, 2021 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34856081
5.
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
J Inherit Metab Dis
; 43(3): 574-585, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707734
6.
Clinical Features of Lysosomal Acid Lipase Deficiency.
J Pediatr Gastroenterol Nutr
; 61(6): 619-25, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26252914
7.
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.
J Hepatol
; 61(5): 1135-42, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24993530
8.
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.
Blood Cells Mol Dis
; 53(4): 253-60, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24950666
9.
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease.
Hepatology
; 58(3): 950-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348766
10.
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease.
J Med Genet
; 49(3): 212-20, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22315436
11.
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
Orphanet J Rare Dis
; 18(1): 203, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480023
12.
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Br J Haematol
; 158(4): 528-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22640238
13.
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Mol Genet Metab
; 107(3): 534-41, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959828
14.
Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes.
Haematologica
; 97(12): 1850-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773601
15.
Fabry disease, enzyme replacement therapy and the significance of antibody responses.
J Inherit Metab Dis
; 35(2): 227-43, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22037707
16.
Potential biomarkers of osteonecrosis in Gaucher disease.
Blood Cells Mol Dis
; 46(1): 27-33, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21075651
17.
Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.
Mol Genet Metab
; 103(3): 207-14, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21543245
18.
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
em Inglês
| MEDLINE | ID: mdl-33039984
19.
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.
Syst Rev
; 6(1): 87, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28427477
20.
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Orphanet J Rare Dis
; 10: 36, 2015 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25885911