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

A proposed model for the pathogenesis of Niemann-Pick disease type

PDF) Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

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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

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

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

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report, Journal of Medical Case Reports

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

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Niemann-Pick Disease, Types A and B