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Article

Early miglustat therapy in infantile Niemann-Pick disease type C.

Pediatric neurology - 1 Jul 2012

Di Rocco Maja, Dardis Andrea, Madeo Annalisa, Barone Rita, Fiumara Agata

Abstract excerpt

Niemann-Pick disease type C is a rare inherited cholesterol trafficking disorder, where impaired intracellular lipid transport leads to storage of unesterified cholesterol and glycosphingolipids in many tissues, including the brain. Substrate reduction therapy with miglustat, an iminosugar that inhibits glycosphingolipid synthesis, was proposed to treat Niemann-Pick disease type C, based on evidence of slower...

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Identifiers

PMID: 22704015
DOI: 10.1016/j.pediatrneurol.2012.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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