Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay
酸性神经酰胺酶缺乏症:SMA-PME自然史、生物标志物和细胞内酶活性检测的新见解
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200243
Cuinat, Silvestre; Rollier, Paul; Grand, Katheryn; Sanchez-Lara, Pedro A; Allen-Sharpley, Michelle; Levade, Thierry; Vanier, Marie T; Lion Francois, Laurence; Chemaly, Nicole; de Lattre, Capucine; Moreau, Camille; Paquot, Adrien; Beghyn, Terence; de Masfrand, Servane; Bézieau, Stéphane; Mercier, Sandra; Boespflug-Tanguy, Odile