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Fabry disease
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Keyword
keyword
Fabry disease
RIS
0.002
(Research Intensity Score)
Papers
121
Top papers
Diagnostic and prognostic role of late gadolinium enhancement in cardiomyopathies
2023 · 90 citations
Human kidney organoids reveal the role of glutathione in Fabry disease
2021 · 56 citations
Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial
2025 · 14 citations
Clinical management of female patients with Fabry disease based on expert consensus
2025 · 13 citations
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
2025 · 10 citations
<p>Diagnosis and Screening of Patients with Fabry Disease</p>
2020 · 68 citations
From thick walls to clear answers: approaches to diagnosing hypertrophic cardiomyopathy and its mimics
2025 · 10 citations
Proposed Stages of Myocardial Phenotype Development in Fabry Disease
2018 · 169 citations
Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy
2025 · 7 citations
Newest papers
Intraepidermal nerve fiber density as a predictor of cardiac events in Fabry disease
2026 · 1 citations
Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA
2026
Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series
2026
Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies
2026
Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies
2026
Cardiac Magnetic Resonance Radiomics for the diagnosis of cardiomyopathies
2026
Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification
2026
Myocardial inflammation and scar expansion in patients with Anderson-Fabry disease.
2026
Autophagy–Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy
2026
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