Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene

Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: New Horizons in Translational Medicine - Volume 2, Issues 6–7, September 2015, Pages 155-158

Massimiliano Chetta, Anna Guacci, Francesca Rizzo, Giovanna Marchese, Francesca Felicia Operto, Alessandro Weisz, Giangennaro Coppola,