Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

标题
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy
作者
关键词
Spinal muscular atrophy with progressive myoclonic epilepsy, Acid ceramidase, Zebra bodies, Lysosomal storage
出版物
NEUROMUSCULAR DISORDERS
Volume 25, Issue 12, Pages 959-963
出版商
Elsevier BV
发表日期
2015-09-17
DOI
10.1016/j.nmd.2015.09.007

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