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

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

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 years. Vertic...

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Bibliographic Details
Main Authors: Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive
Format: Article
Language:English
Published: Thieme Revinter Publicações 2014-03-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença de Niemann-Pick tipo C
medula óssea
coloração de filipina
gene NPC1
miglustate
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300214&lng=en&tlng=en
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