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Volume 3, Issue 3 (September, 2024) – 10 articles

Cover Picture: High sensitivity and specificity mass spectrometry assays enabled the analysis of a complete biochemical profile of Fabry disease-related biomarkers in urine and plasma, leading to better monitoring and follow-up of these treated patients as part of a precision medicine approach. The biochemical profile also helped learn more about the complex pathophysiology involved in Fabry patients. Future perspectives will focus on correlation studies between these biomarkers and the clinical manifestations of the disease.
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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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