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Article

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

The Journal of pediatrics - 1 Oct 2006

Wasserstein Melissa P, Aron Alan, Brodie Scott E, Simonaro Calogera, Desnick Robert J, McGovern Margaret M

Abstract excerpt

OBJECTIVE: To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. STUDY DESIGN: Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype. RESULTS: Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5...

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Source

Identifiers

PMID: 17011332
DOI: 10.1016/j.jpeds.2006.06.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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