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
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
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Giornale di Clinica Nefrologia e Dialisi, 2019 The markers of renal involvement in Anderson-Fabry disease are defects of urine concentration, presence of cells with lipid cytoplasmatic inclusions (mulberry bodies) and podocyturia. The loss of urine concentrating capacity is not easy to detect and the
Sandro Feriozzi, Mario Mangeri
doaj +1 more source
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors [PDF]
, 2017 Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Arends, M +10 more
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Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now
Diseases, 2017 Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation.
Idalina Beirão +6 more
doaj +1 more source
Is it Fabry disease? Diagnostic and follow-up approach [PDF]
, 2016 A doença de Anderson-Fabry (DAF) é uma doença sistémica de sobrecarga lisossomal causada por mutações patogénicas do gene GLA (cromossoma X) que condicionam diminuição ou ausência α-galactosidase A e acumulação de globotriaosilceramida (Gb3) e outros ...
Aguiar, Patricio +5 more
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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]
, 2015 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Arngrímsson, Reynir +33 more
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Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy
JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley +1 more source
Role of cardiac imaging in Anderson-Fabry cardiomyopathy
Cardiovascular Ultrasound, 2019 The Anderson-Fabry disease (AFD, or simply Fabry Disease, FD; MIM #301500) is a rare X-linked lysosomal storage disorder (Xq22.1) characterized by progressive renal failure, leading to morbidity through cardio- and cerebro-vascular involvement.
Walter Serra, Nicola Marziliano
doaj +1 more source
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. [PDF]
, 2017 Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications.
Arends, M +5 more
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