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Article

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.

Journal of the neurological sciences - 1 Nov 2006

Iturriaga C, Pineda M, Fernández-Valero E M, Vanier M T, Coll M J

Abstract excerpt

OBJECTIVES: To describe the clinical evolution of Niemann-Pick C disease to identify possible factors involved in the diagnosis and severity of the disease. METHODS: A clinical database and a severity scale was created to evaluate 45 patients diagnosed with Niemann-Pick type C in the last 28 years in Spain. RESULTS: Complete clinical data were obtained from 30 patients, all were confirmed to have mutations in the...

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Source

Identifiers

PMID: 16814322
DOI: 10.1016/j.jns.2006.05.054

Genes

NPC1

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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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