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Author

A. Iuso

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Review Open access Aug 2026

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis

Therapeutic strategies are likely to require disease‐specific approaches, including precursor bypass or PANK activation where pathway flux can be restored, early pantethine supplementation in cardiomyopathic forms, and downstream or gene‐directed strategies for COASY‐related disorders.

I. Di Meo, Y. Anikster, Valeria Tiranti et al. · 0 citations
Open access Jul 2026

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.

Ugo Sorrentino, M. Brugger, A. Saparov et al. · 0 citations

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