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Now showing items 1-9 of 9

Effect of collection, transport, processing and storage of blood specimens on the activity of lysomal enzimes in plasma and leukocytes

Burin, Maira Graeff; Dutra Filho, Carlos Severo; Brum, J.; Mauricio, T.; Amorim, M.; Giugliani, Roberto (2010)

Medicamentos de alto custo para doenças raras no Brasil : o exemplo das doenças lisossômicasHigh cost drugs for rare diseases in Brazil : the case of lysosomal storage disorders

Souza, Monica Vinhas de; Krug, Bárbara Côrrea; Picon, Paulo Dornelles; Schwartz, Ida Vanessa Doederlein (2011)

Genomic analysis of Brazilian patients with fabry disease

Pereira, Fernanda dos Santos; Jardim, Laura Bannach; Netto, Cristina Brinckmann Oliveira; Burin, Maira Graeff; Cecchin, Cláudia Rafaela; Giugliani, Roberto; Matte, Ursula da Silveira (2010)

Effect of dimethylsufoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts

Scalco, Fernanda Bertao; Giugliani, Roberto; Tobo, Patricia R.; Coelho, Janice Carneiro (2010)

Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil

Puga, Ana Cristina Scheidt; Jardim, Laura Bannach; Souza, Carolina Fischinger Moura de (2010)

A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses

Leistner-Segal, Sandra; Giugliani, Roberto (2010)

A Clinical Study Of 77 Patients With Mucopolysaccharidosis Type Ii

Schwartz I.V.D.; Ribeiro M.G.; Mota J.G.; Toralles M.B.P.; Correia P.; Horovitz D.; Santos E.S.; Monlleo I.L.; Fett-Conte A.C.; Sobrinho R.P.O.; Norato D.Y.; Paula A.C.; Kim C.A.; Duarte A.R.; Boy R.; Valadares E.; De Michelena M.; Mabe P.; Martinhago C.D.; Pina-Neto J.M.; Kok F.; Leistner-Segal S.; Burin M.G.; Giugliani R. (, 2007)

Population analysis of the GLB1 gene in South Brazil

Baiotto, Cléia Rosani; Sperb, Fernanda; Matte, Ursula da Silveira; Silva, Claudia Dornelles da; Sano, Renata; Coelho, Janice Carneiro; Giugliani, Roberto (2011)

Intoxicações naturais por plantas em ruminantes diagnosticadas no Setor de Patologia Veterinária da UFRGS no período de 1996-2005Spontaneous poisoning in ruminants by consumption of toxic plants: cases diagnosed by the Laboratory of Veterinary Pathology (UFRGS) in the period 1996-2005

Pedroso, Pedro Miguel Ocampos; Pescador, Caroline Argenta; Oliveira, Eduardo Conceição de; Sonne, Luciana; Bandarra, Paulo Mota; Raymundo, Djeison Lutier; Driemeier, David (2011)