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

IJMS, Free Full-Text

10: Types A and B Niemann–Pick Disease

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

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

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

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases

IJMS, Free Full-Text

IJMS, Free Full-Text

Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

PDF) Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

What Is Niemann-Pick Disease?

Proposed diagnostic algorithm for patients with suspected Niemann-Pick