AIMC Topic: Fabry Disease
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Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account.
PloS one
Jun 30, 2025
BACKGROUND: Rare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women. Since therape...
Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.
Orphanet journal of rare diseases
Apr 17, 2025
BACKGROUND: Use of artificial intelligence (AI) in rare diseases has grown rapidly in recent years. In this review we have outlined the most common machine-learning and deep-learning methods currently being used to classify and analyse large amounts ...
Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease.
Orphanet journal of rare diseases
Apr 3, 2025
PURPOSE: The aim of this study was to assess retinal microvascular parameters (RMPs) in Fabry disease (FD) using deep learning, and analyze the correlation with brain lesions related to cerebral small vessel disease (CSVD).
Diagnostic and prognostic perspectives of Fabry disease via fiber evanescent wave spectroscopy advanced by machine learning.
Biosensors & bioelectronics
Jan 7, 2025
Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Geneti...
In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.
International journal of molecular sciences
Sep 25, 2024
Fabry disease (FD) is an X-linked lysosomal disease whose ultimate consequences are the accumulation of sphingolipids and subsequent inflammatory events, mainly at the endothelial level. The outcomes include different nervous system manifestations as...
Assessing brain involvement in Fabry disease with deep learning and the brain-age paradigm.
Human brain mapping
Apr 1, 2024
While neurological manifestations are core features of Fabry disease (FD), quantitative neuroimaging biomarkers allowing to measure brain involvement are lacking. We used deep learning and the brain-age paradigm to assess whether FD patients' brains ...
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