Cell BiologyJournal of Biological ChemistryPeer-reviewed
Expression study of Krabbe Disease GALC missense variants -- Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels
Hui Chin Peng, Ying‐Wai Lam, Kwok‐Fai Lau…·Chris W. Lee
This study quantifies the functional impact of GALC missense variants in Krabbe disease, showing strong correlations between residual enzyme activity, clinical severity, and psychosine levels.
4 citations