Search Results - "Sebastião, Fernanda M."

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10 by Hammerschmidt, Tatiane G., Donida, Bruna, Faverzani, Jéssica L., Moura, Alana P., dos Reis, Bianca G., Machado, Andryele Z., Kessler, Rejane G., Sebastião, Fernanda M., Reinhardt, Luiza S., Moura, Dinara J., Vargas, Carmen R.

“…Niemann Pick type C is an inborn error of metabolism (IEM), classified as a lysosomal storage disease (LSD) caused by a dysfunction in NPC transport protein,…”
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Prenatal diagnosis of Pompe disease by Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kessler, Rejane Gus, Tirelli, Kristiane M., Pasetto, Fernanda B., Sebastião, Fernanda M., Kubaski, Francyne, de Camargo Pinto, Louise Lapagesse, Giugliani, Roberto

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Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil by Bravo-Villalta, Heydy V, Neto, Eurico C, Schulte, Jaqueline, Pereira, Jamile, Sampaio-Filho, Cláudio, Burin, Maira G, Bitencourt, Fernanda H, Sebastião, Fernanda M, Guidobono, Régis R, Brusius-Facchin, Ana C, Pasqualim, Gabriela, Rojas-Málaga, Diana E, Matte, Ursula S, Giugliani, Roberto

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Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate by Kubaski, Francyne, Miguel, Diego, Grangeiro, Carlos H.P., Malaga, Diana R., Brusius-Facchin, Ana C., Trapp, Franciele B., Sebastiao, Fernanda M., Burin, Maira G., Michelin-Tirelli, Kristiane, Mason, Robert W., Tomatsu, Shunji, Giugliani, Roberto

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