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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

A. Robson

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Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · 0 citations

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