Navegação Ciências da Saúde por Assunto "Fabry disease"
Resultados 1-11 de 11
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A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
(2021) [Artigo de periódico]Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‑ tions and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement ... -
Clinical and diagnostic aspects of Fabry disease management : a narrative review with a particular focus on Brazilian experts’ perspectives
(2021) [Artigo de periódico]Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better ... -
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
(2019) [Artigo de periódico]Purpose: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype. Methods: Data were evaluated in two subgroups of patients with migalastat-amenable ... -
Enzyme replacement therapy for Fabry disease : a systematic review and meta-analysis
(2012) [Artigo de periódico]The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. ... -
Genomic analysis of Brazilian patients with fabry disease
(2007) [Artigo de periódico]Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, ... -
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
(2021) [Artigo de periódico]The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERTexperienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical ... -
Long-term outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events
(2017) [Artigo de periódico]This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n =677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity ... -
Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial
(2018) [Artigo de periódico]Background: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with ... -
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil
(2016) [Artigo de periódico]Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting ... -
Twenty years of the Fabry Outcome Survey (FOS) : insights, achievements, and lessons learned from a global patient registry
(2022) [Artigo de periódico]Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the efects of treatment on large patient populations with rare diseases. ... -
White matter lesions in Fabry disease before and after enzyme replacement therapy : a 2-year follow-up
(2006) [Artigo de periódico]Objetivo: Relatar os achados neurológicos e de imagem do sistema nervoso central (SNC), observados durante 24 meses de tratamento de reposição enzimática (ERT) com agalsidase-alfa, em pacientes com a doença de Fabry (FD). ...
