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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

Effect of amikacin, cephalothin, clindamycin and vancomycin on in vitro fibrobl...

Souza,Fernanda Timm Seabra; Mello,Alexandre Silva de; Michelin,Kristiane; Coelho,Janice Carneiro

The effect of four antibiotics (amikacin, clindamycin, cephalothin and vancomycin) was investigated considering that bacterial infection in fibroblasts cultures is a very frequent event. The investigation included the effect of the antibiotics on fibroblast growth and on the activity of the enzyme glucocerebrosidase. The antibiotics were added to the fibroblast cultures and cell growth was evaluated by counting...

Date: 2004   |   Origin: Oasisbr

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