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Article

Low ceruloplasmin in a patient with Niemann-Pick type C disease.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Apr 2012

Connemann Bernhard J, Gahr Maximilian, Schmid Markus, Runz Heiko, Freudenmann Roland W

Abstract excerpt

We present a 28-year-old woman with a diagnosis of Niemann-Pick type C disease which was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper. This report supports the hypothesis that NPC1 could play a role in copper metabolism.

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Source

Identifiers

PMID: 22269206
DOI: 10.1016/j.jocn.2011.05.038

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Low ceruloplasmin in a patient with Niemann-Pick type C disease.PMID 22269206Read ↗

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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.Semantic proximity Read ↗

Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia.Semantic proximity Read ↗

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsSemantic proximity Read ↗

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