Niemann-Pick disease A or B in four pediatric patients and SMPD1

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

PDF) Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease

Niemann-Pick Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Niemann Pick Disease - an overview

Niemann Pick Disease - Rivin

PDF) A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene

PDF) Niemann-Pick type A disease with new mutation: a case report

IJMS, Free Full-Text

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease - Ranganath - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library