Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Lipid trafficking defects in Niemann-Pick type C disease

Niemann–Pick disease - Wikipedia

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

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) A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene

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

Niemann-Pick Disease Concise Medical Knowledge

10: Types A and B Niemann–Pick Disease

Niemann–Pick disease - Wikipedia

Niemann-Pick Disease, Types A and B

Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
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