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

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

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect

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

PDF) R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

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

Niemann-Pick Disease

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

What Is Niemann-Pick Disease? - StoryMD

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

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

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

IJNS, Free Full-Text

Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology