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Article

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.

Journal of child neurology - 1 Apr 2011

Goez Helly R, Jacob Francois D, Fealey Robert D, Patterson Marc C, Ramaswamy Vijay, Persad Rabin, Johnson Edward S, Yager Jerome Y

Abstract excerpt

Abnormal copper metabolism has been linked with neurological disorders, such as Wilson and Menkes disease. Another disorder causing symptoms similar to copper metabolism disorder is Niemann-Pick type C. However, a definite pathophysiological connection between Niemann-Pick type C and copper metabolism disorders has never been established. The authors present an adolescent with an unusual presentation of copper...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21273508
DOI: 10.1177/0883073810383983

Genes

NPC1

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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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