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

Lorenzoni,Paulo José; Cardoso,Elaine; Crippa,Ana C. S.; Lourenço,Charles Marques; Souza,Fernanda Timm Seabra; Giugliani,Roberto

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. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin s...

Date: 2014   |   Origin: Oasisbr
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