The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Michelle M LeeGraeme S V McDowellDarryl C De VivoDaniel FriedmanSamuel Frank BerkovicMaria SpanouArgirios DinopoulosKatheryn GrandPedro A Sanchez-LaraMichelle Allen-SharpleyJodi Warman-ChardonAlexander SolyomThierry LevadeEdward H SchuchmanSteffany A L BennettDavid A DymentToni S PearsonPublished in: Annals of clinical and translational neurology (2022)
This study details the genotype-phenotype correlations observed in SMA-PME and shows the impact of rhAC to correct the abnormal cellular ceramide profile in cells.