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Article

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

Gene - 10 Sept 2012

Pérez-Poyato María Socorro, Gordo M Mar O'Callaghan, Marfa Mercé Pineda

Abstract excerpt

Niemann-Pick type C disease (NP-C) is a lysosomal storage disorder characterized by a progressive neurological deterioration. Different clinical forms have been defined based on patient age at neurological symptoms onset: perinatal, early infantile (EI), late infantile (LI), juvenile and adult. There is no curative treatment for NP-C. Miglustat is the first effective therapy for the neurological manifestations of...

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Identifiers

PMID: 22750297
DOI: 10.1016/j.gene.2012.06.054

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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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