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Article

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

American journal of human genetics - 1 Dec 2002

Simonaro Calogera M, Desnick Robert J, McGovern Margaret M, Wasserstein Melissa P, Schuchman Edward H

Abstract excerpt

We have collected demographic and/or mutation information on a worldwide sample of 394 patients with type B Niemann-Pick disease (NPD). The disorder is panethnic, with the highest incidence occurring in individuals of Turkish, Arabic, and North African descent. Only five of the 394 patients were Ashkenazi Jewish, revealing that, unlike the type A form of NPD, type B NPD does not occur frequently within this...

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Source

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Identifiers

PMID: 12369017
DOI: 10.1086/345074
PMCID: PMC378582

Genes

SMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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