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