Author

Carlos R. Ferreira

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Open access Oct 2026

A quantitative disorder-phenotype atlas of inherited metabolic disorders reveals shared symptom spaces and group-specific hotspots.

This first-generation knowledgebase-level atlas quantifies reported disorder-level phenotype architecture rather than patient-level prevalence or natural history rather than patient-level prevalence or natural history and provides a scalable framework for phenotype standardization, diagnostic navigation, targeted curat...

Nenad Blau, J. Vockley, Carlos Ferreira · Molecular Genetics and Metab... · 0 citations

Review Open access Aug 2026

Clinical and biochemical footprints of inherited disorders of autophagy.

This review summarizes pathobiochemistry, genetics, clinical presentation, diagnosis and treatment prospects for inherited disorders of autophagy, and provides a standardized framework for quantifying shared phenotypic signatures across these ultra-rare conditions.

H. Jungbluth, H. Dafsari, Carlos R. Ferreira et al. · Molecular Genetics and Metab... · 0 citations