The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
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DOI: 10.1002/acn3.51687
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… read more here.
Keywords: cellular ceramide; sma pme; spectrum;