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Dione A Holder

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Open access Aug 2026

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA.

GalnsR384C and GalnsR384Y mice recapitulate key biochemical, skeletal, and histopathological features of MPS IVA and provide well-characterized murine models of severe GALNS loss-of-function resulting from clinically relevant missense variants.

Dione A Holder, B. Çelik, Sampurna Saikia et al. · 0 citations

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