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

Published 2015 View Full Article

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Title
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy
Authors
Keywords
Spinal muscular atrophy with progressive myoclonic epilepsy, Acid ceramidase, Zebra bodies, Lysosomal storage
Journal
NEUROMUSCULAR DISORDERS
Volume 25, Issue 12, Pages 959-963
Publisher
Elsevier BV
Online
2015-09-17
DOI
10.1016/j.nmd.2015.09.007

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