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[Annexins in Niemann-Pick type C disease].

Postepy biochemii - 1 Jan 2007

Buszewska Małgorzata Eliza, Strzelecka-Kiliszek Agnieszka, Tylki-Szymańska Anna, Bandorowicz-Pikuła Joanna

Abstract excerpt

Niemann-Pick disease is a genetic disorder, affecting approximately 1 to 150,000 living births per year; in Poland 1-5 cases. Usually diagnosed in the childhood, Niemann-Pick disease results in death in the teenage years. Niemann-Pick disease is defined as a lysosomal storage disorder and is related to impaired transport and/or accumulation of specific lipids inside the cell. In this report, we provide evidence...

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Identifiers

PMID: 17969878

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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