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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

N. Blau

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3 papers indexed here

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Review Open access Aug 2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders

Lysosomal disorders (LDs) have traditionally been defined by intra‐lysosomal substrate accumulation resulting from deficiencies of lysosomal enzymes or associated proteins. Advances in lysosomal biology have demonstrated that lysosomes function as central regulators of cellular signalling, membrane trafficking, autopha...

Eamon P. McCarron, N. Blau, E. R. Eden et al. · 0 citations
Review Sep 2026

Mechanisms of Aging in Phenylketonuria (PKU).

A narrative review synthesizes the current evidence on accelerated aging in PKU, describes its clinical manifestations, and proposes potential aging biomarkers and treatment targets.

John Bassett, Neve Cufflin, Iain P Hargreaves et al. · 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. · 0 citations

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