Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Cuinat S, Rollier P, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Levade T, Vanier MT, Lion Francois L, Chemaly N, de Lattre C, Moreau C, Paquot A, Beghyn T, de Masfrand S, Bézieau S, Mercier S, Boespflug-Tanguy O.