The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.

Michelle M Lee,Graeme S V McDowell,Darryl C De Vivo,Daniel Friedman,Samuel F Berkovic,Maria Spanou,Argirios Dinopoulos,Katheryn Grand,Pedro A Sanchez-Lara, Michelle Allen-Sharpley, Jodi Warman-Chardon,Alexander Solyom,Thierry Levade,Edward H Schuchman,Steffany A L Bennett,David A Dyment,Toni S Pearson

Annals of clinical and translational neurology（2022）

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摘要

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.

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