Roberto Giugliani
AuthID: R-00F-BF9
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TITLE: Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase Full Text
AUTHORS: Paul Harmatz; Zi Fan Yu; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leao Teles; Clara C S Sa Miranda ; Edmond E Wraith; Michael Beck; Laila Arash; Maurizio Scarpa; David Ketteridge; John J Hopwood; Barbara Plecko; Robert Steiner; Chester B Whitley; Paige Kaplan; Stuart J Swiedler; Karen Hardy; Kenneth I Berger; ...More
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: 1
AUTHORS: Paul Harmatz; Zi Fan Yu; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leao Teles; Clara C S Sa Miranda ; Edmond E Wraith; Michael Beck; Laila Arash; Maurizio Scarpa; David Ketteridge; John J Hopwood; Barbara Plecko; Robert Steiner; Chester B Whitley; Paige Kaplan; Stuart J Swiedler; Karen Hardy; Kenneth I Berger; ...More
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: 1
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TITLE: Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase Full Text
AUTHORS: Paul Harmatz; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leao Teles; Clara Sa S Miranda ; Edmond E Wraith; Michael Beck; Laila Arash; Maurizio Scarpa; David Ketteridge; John J Hopwood; Barbara Plecko; Robert Steiner; Chester B Whitley; Paige Kaplan; Zi Fan Yu; Stuart J Swiedler; Celeste Decker;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 4
AUTHORS: Paul Harmatz; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leao Teles; Clara Sa S Miranda ; Edmond E Wraith; Michael Beck; Laila Arash; Maurizio Scarpa; David Ketteridge; John J Hopwood; Barbara Plecko; Robert Steiner; Chester B Whitley; Paige Kaplan; Zi Fan Yu; Stuart J Swiedler; Celeste Decker;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 4
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TITLE: Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy Full Text
AUTHORS: Marion Deon; Angela Sitta; Alethea G Barschak; Daniela M Coelho; Maiara Pigatto; Graziela O Schmitt; Laura B Jardim; Roberto Giugliani; Moacir Wajner; Carmen R Vargas;
PUBLISHED: 2007, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 25, ISSUE: 7
AUTHORS: Marion Deon; Angela Sitta; Alethea G Barschak; Daniela M Coelho; Maiara Pigatto; Graziela O Schmitt; Laura B Jardim; Roberto Giugliani; Moacir Wajner; Carmen R Vargas;
PUBLISHED: 2007, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 25, ISSUE: 7
INDEXED IN: 
WOS 
CrossRef
WOS CrossRef14
TITLE: Mutational analysis of 105 mucopolysaccharidosis type VI patients Full Text
AUTHORS: Litsa Karageorgos; Doug A Brooks; Anthony Pollard; Elizabeth L Melville; Leanne K Hein; Peter R Clements; David Ketteridge; Stuart J Swiedler; Michael Beck; Roberto Giugliani; Paul Harmatz; James E Wraith; Nathalie Guffon; Elisa Leao Teles; Clara Sa S Miranda ; John J Hopwood;
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 9
AUTHORS: Litsa Karageorgos; Doug A Brooks; Anthony Pollard; Elizabeth L Melville; Leanne K Hein; Peter R Clements; David Ketteridge; Stuart J Swiedler; Michael Beck; Roberto Giugliani; Paul Harmatz; James E Wraith; Nathalie Guffon; Elisa Leao Teles; Clara Sa S Miranda ; John J Hopwood;
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 9
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TITLE: Cardiac findings in MPS VI patients after enzyme replacement therapy Full Text
AUTHORS: Harmatz, P; Rosenfeld, H; Giugliani, R; Schwartz, I; Guffon, N; Sa S Miranda; Teles, EL; Wraith, JE; Beck, M; Scarpa, M; Mark Hudes; Sean Turbeville; Richard Tibbs; Swiedler, SJ; Decker, C;
PUBLISHED: 2007, SOURCE: 3rd Annual World Symposium on Lysosomal Disease Networks in MOLECULAR GENETICS AND METABOLISM, VOLUME: 92, ISSUE: 4
AUTHORS: Harmatz, P; Rosenfeld, H; Giugliani, R; Schwartz, I; Guffon, N; Sa S Miranda; Teles, EL; Wraith, JE; Beck, M; Scarpa, M; Mark Hudes; Sean Turbeville; Richard Tibbs; Swiedler, SJ; Decker, C;
PUBLISHED: 2007, SOURCE: 3rd Annual World Symposium on Lysosomal Disease Networks in MOLECULAR GENETICS AND METABOLISM, VOLUME: 92, ISSUE: 4
INDEXED IN: WOS CrossRef
WOS CrossRef16
TITLE: Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings Full Text
AUTHORS: Trott, A; Jardim, LB; Ludwig, HT; Saute, JAM; Artigalas, O; Kieling, C; Wanderley, HYC; Rieder, CRM; Monte, TL; Socal, M; Alonso, I ; Ferro, A; Carvalho, T; do Ceu Moreira, M; Mendonca, P; Ferreirinha, F ; Silveira, I ; Sequeiros, J ; Giugliani, R; Saraiva Pereira, ML;
PUBLISHED: 2006, SOURCE: CLINICAL GENETICS, VOLUME: 70, ISSUE: 2
AUTHORS: Trott, A; Jardim, LB; Ludwig, HT; Saute, JAM; Artigalas, O; Kieling, C; Wanderley, HYC; Rieder, CRM; Monte, TL; Socal, M; Alonso, I ; Ferro, A; Carvalho, T; do Ceu Moreira, M; Mendonca, P; Ferreirinha, F ; Silveira, I ; Sequeiros, J ; Giugliani, R; Saraiva Pereira, ML;
PUBLISHED: 2006, SOURCE: CLINICAL GENETICS, VOLUME: 70, ISSUE: 2
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TITLE: Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase Full Text
AUTHORS: Harmatz, P; Ketteridge, D; Giugliani, R; Guffon, N; Teles, EL; Miranda, MCS ; Yu, ZF; Swiedler, SJ; Hopwood, JJ;
PUBLISHED: 2005, SOURCE: PEDIATRICS, VOLUME: 115, ISSUE: 6
AUTHORS: Harmatz, P; Ketteridge, D; Giugliani, R; Guffon, N; Teles, EL; Miranda, MCS ; Yu, ZF; Swiedler, SJ; Hopwood, JJ;
PUBLISHED: 2005, SOURCE: PEDIATRICS, VOLUME: 115, ISSUE: 6
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TITLE: Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis Full Text
AUTHORS: Tort, ABL; Portela, LV; Tavares, MD; Goncalves, CA; Netto, C; Giugliani, R; Souza, DO;
PUBLISHED: 2004, SOURCE: LIFE SCIENCES, VOLUME: 76, ISSUE: 4
AUTHORS: Tort, ABL; Portela, LV; Tavares, MD; Goncalves, CA; Netto, C; Giugliani, R; Souza, DO;
PUBLISHED: 2004, SOURCE: LIFE SCIENCES, VOLUME: 76, ISSUE: 4
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TITLE: S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome Full Text
AUTHORS: Netto, CB; Siqueira, IR; Fochesatto, C; Portela, LV; Tavares, MD; Souza, DO; Giugliani, R; Goncalves, CA;
PUBLISHED: 2004, SOURCE: CLINICAL BIOCHEMISTRY, VOLUME: 37, ISSUE: 2
AUTHORS: Netto, CB; Siqueira, IR; Fochesatto, C; Portela, LV; Tavares, MD; Souza, DO; Giugliani, R; Goncalves, CA;
PUBLISHED: 2004, SOURCE: CLINICAL BIOCHEMISTRY, VOLUME: 37, ISSUE: 2
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TITLE: Neurologic Findings in Machado-Joseph Disease. Relation With Disease Duration, Subtypes, and (CAG) n
AUTHORS: Laura B Jardim; Maria L Pereira; Isabel Silveira; Anabela Ferro; Jorge Sequeiros; Roberto Giugliani;
PUBLISHED: 2001, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 58, ISSUE: 6
AUTHORS: Laura B Jardim; Maria L Pereira; Isabel Silveira; Anabela Ferro; Jorge Sequeiros; Roberto Giugliani;
PUBLISHED: 2001, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 58, ISSUE: 6
