Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene
The Indian Journal of Pediatrics, 03/16/2012
Gucev Z et al. – This is the first report of Niemann–Pick disease (NPD) type B in Macedonia. The novel mutation results in a moderately severe phenotype of NPD type B.