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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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2 papers indexed here

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Review Sep 2026

Mechanisms of Aging in Phenylketonuria (PKU).

Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder (IMD) characterized by elevated phenylalanine (Phe) levels, requiring a low-protein diet and low-Phe amino acid supplementation from birth to prevent cognitive impairment. Despite early and continuous treatment, emerging evidence indicates tha...

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.

Autophagy is an evolutionarily conserved lysosomal recycling system that integrates nutrient sensing, organelle quality control, proteostasis, cellular stress responses and metabolic adaptation. Autophagy is particularly relevant for post-mitotic tissue such as neurons, skin, and immune cells. Monogenic disorders disru...

H. Jungbluth, H. Dafsari, Carlos R. Ferreira et al. · 0 citations

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