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Jian-Yu Wang

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Case report Open access Aug 2026

Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease

This report describes a family in which identical homozygous GALC mutations presented with markedly distinct clinical phenotypes and disease trajectories during adulthood, thereby substantially expanding the current understanding of the phenotypic spectrum of Krabbe disease and offering novel insights into the differen...

Li-Ning Chong, Yuan-Yuan Li, Ya-Li Wang et al. · 0 citations

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