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

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

Niemann Pick Disease - Rivin

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

PDF) For Peer Review Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics

Niemann Pick Disease Type A in an Infant: A Case Report

Cureus, Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

From genes to hope

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

Niemann-Pick Disease Concise Medical Knowledge

Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature

Niemann-Pick Disease, Type C2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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, Type C1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials