Detalhe da pesquisa
1.
Neuronopathic Gaucher disease: Rare in the West, common in the East.
J Inherit Metab Dis
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38768609
2.
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
3.
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Genet Med
; 25(12): 100968, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37634127
4.
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
5.
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Am J Med Genet A
; 191(7): 1783-1791, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37042183
6.
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Mol Genet Metab
; 135(2): 154-162, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34972655
7.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Mol Genet Metab
; 136(1): 4-21, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367141
8.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696996
9.
The definition of neuronopathic Gaucher disease.
J Inherit Metab Dis
; 43(5): 1056-1059, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242941
10.
The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.
Int J Mol Sci
; 21(19)2020 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33003611
11.
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
12.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509102
13.
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Blood
; 129(17): 2375-2383, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167660
14.
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.
J Inherit Metab Dis
; 42(3): 534-544, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30834538
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
16.
Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease.
Blood Cells Mol Dis
; 68: 81-85, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839980
17.
Gaucheromas: When macrophages promote tumor formation and dissemination.
Blood Cells Mol Dis
; 68: 100-105, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839983
18.
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
Blood Cells Mol Dis
; 68: 226-231, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839985
19.
ACE phenotyping in Gaucher disease.
Mol Genet Metab
; 123(4): 501-510, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478818
20.
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).
Am J Hematol
; 93(2): 205-212, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29090476