Publications by authors named "Cristina Melcon-Crespo"
Article Synopsis
- * The study aimed to analyze cytokines and cardiovascular markers in the plasma of Fabry disease patients, both treated and untreated, to assess their potential in monitoring disease progression and treatment effects.
- * Researchers identified several markers associated with inflammation and endothelial dysfunction that are elevated in Fabry patients, suggesting they could be used to predict disease severity and assess treatment outcomes, despite their non-specificity to the condition.
Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism. Different therapeutic approaches, which are based on the physiologic mechanisms that regulate lysosomal function, have been proposed for these diseases. Currently, enzyme replacement therapy, gene therapy, or small molecules have been approved or are under clinical development to treat lysosomal storage disorders.
View Article and Find Full Text PDFUnlabelled: Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings.
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