11
TITLE: Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme (R)) therapy  Full Text
AUTHORS: Braunlin, E; Rosenfeld, H; Kampmann, C; Johnson, J; Beck, M; Giugliani, R; Guffon, N; Ketteridge, D; Sa Miranda, CMS ; Scarpa, M; Schwartz, IV; Leao Teles, EL; Wraith, JE; Barrios, P; Dias da Silva, ED; Kurio, G; Richardson, M; Gildengorin, G; Hopwood, JJ; Imperiale, M; Schatz, A; Decker, C; Harmatz, P; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 36, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
12
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; Celeste Decker; ...More
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
13
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
INDEXED IN: Scopus WOS CrossRef
14
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
INDEXED IN: WOS CrossRef
15
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
INDEXED IN: Scopus WOS CrossRef
16
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
INDEXED IN: WOS CrossRef
17
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
INDEXED IN: Scopus WOS CrossRef: 23
19
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
INDEXED IN: Scopus WOS CrossRef
20
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
INDEXED IN: Scopus WOS CrossRef
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