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Enzyme replacement therapy
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Keyword
keyword
Enzyme replacement therapy
RIS
0.001
(Research Intensity Score)
Papers
93
Top papers
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
2025 · 10 citations
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease
2025 · 11 citations
Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa
2025 · 9 citations
Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice
2023 · 20 citations
A myotropic AAV vector combined with skeletal muscle cis-regulatory elements improve glycogen clearance in mouse models of Pompe disease
2025 · 7 citations
Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice
2025 · 5 citations
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review
2025 · 6 citations
Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies
2025 · 7 citations
Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series
2026
Newest papers
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
Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches
2026 · 1 citations
Autophagy–Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy
2026
EMERGING THERAPEUTIC STRATEGIES FOR POMPE DISEASE: A SYSTEMATIC REVIEW OF CURRENT ADVANCES AND FUTURE DIRECTIONS
2026
EMERGING THERAPEUTIC STRATEGIES FOR POMPE DISEASE: A SYSTEMATIC REVIEW OF CURRENT ADVANCES AND FUTURE DIRECTIONS
2026
Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management
2026
Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View
2026
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Enzyme replacement therapy's papers
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