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Article

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.

Journal of inherited metabolic disease - 1 Dec 2010

Lo Sarah M, McNamara Joseph, Seashore Margherita R, Mistry Pramod K

Abstract excerpt

Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. Decreased activity of acid β-glucosidase and elevated serum chitotriosidase and tartrate-resistant acid phosphatase...

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Source

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Identifiers

PMID: 20882348
DOI: 10.1007/s10545-010-9214-3
PMCID: PMC3053412

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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