Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data [PDF]
, 2020 The treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat.
Capuano, Ivana +7 more
core +1 more source
Retinal hyperreflective foci in Fabry disease
Orphanet Journal of Rare Diseases, 2019 Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT ...
Yevgeniya Atiskova +7 more
doaj +1 more source
Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]
, 2016 PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
core
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [PDF]
, 2012 Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids
Albeggiani, G +7 more
core +2 more sources
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease [PDF]
, 2022 Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy.
Altarescu, Gheona +8 more
core +1 more source
Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort
European Journal of Neurology, Volume 32, Issue 11, November 2025.A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez +6 more
wiley +1 more source
Fabry disease and incidence of cancer
Orphanet Journal of Rare Diseases, 2017 Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird +4 more
doaj +1 more source
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Orphanet Journal of Rare Diseases, 2021 Purpose The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic
Yevgeniya Atiskova +5 more
doaj +1 more source
Fabry Disease Associated With Myelodysplastic Syndrome: Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng +5 more
wiley +1 more source
Clinical and diagnostic aspects of Fabry disease management : a narrative review with a particular focus on Brazilian experts’ perspectives [PDF]
, 2021 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 approaches to patient management.
Andrade, Luis Gustavo Modelli de +7 more
core