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Article

Niemann-Pick disease type C: a case series of Brazilian patients.

Arquivos de neuro-psiquiatria - 1 Mar 2014

Lorenzoni Paulo José, Cardoso Elaine, Crippa Ana C S, Lourenço Charles Marques, Souza Fernanda Timm Seabra, Giugliani Roberto, Saraiva-Pereira Maria Luiza, Raskin Salmo, Bruck Isac, Kay Claudia S K, Scola Rosana H, Werneck Lineu C, Teive Hélio A G

Abstract excerpt

UNLABELLED: The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). METHOD: Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. RESULT: The sample consisted of 5 patients aged 8 to 26...

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Source

Identifiers

PMID: 24676439
DOI: 10.1590/0004-282x20130249

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24676439-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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