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

What Is Niemann-Pick Disease?

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

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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

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

IJMS, Free Full-Text

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

Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders

TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia

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

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease – topic of research paper in Biological sciences. Download scholarly article PDF and read

Morbidity and mortality in type B Niemann–Pick disease

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 - Rivin

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease, Orphanet Journal of Rare Diseases