Browsing Health Sciences by Subject "Fabry disease"
Now showing items 1-7 of 7
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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) [Journal article]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) [Journal article]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) [Journal article]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 outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events
(2017) [Journal article]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) [Journal article]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) [Journal article]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 ... -
White matter lesions in Fabry disease before and after enzyme replacement therapy a 2-year follow-up
(2006) [Journal article]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). ...
