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The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation… Click to show full abstract
The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Keywords:
cellular ceramide;
sma pme;
spectrum
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!