32
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
IN MY: ORCID
33
TITLE: Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor
AUTHORS: Claudia P Grou ; Andreia F Carvalho; Manuel P Pinto; Sebastian Wiese; Heike Piechura; Helmut E Meyer; Bettina Warscheid; Clara Sa Miranda ; Jorge E Azevedo ;
PUBLISHED: 2008, SOURCE: JOURNAL OF BIOLOGICAL CHEMISTRY, VOLUME: 283, ISSUE: 21
INDEXED IN: Scopus WOS CrossRef: 88
34
TITLE: Functional characterization of two missense mutations in Pex5p-C11S and N526K  Full Text
AUTHORS: Andrela F Carvalho; Claudia P Grou ; Manuel P Pinto; Ines S Alencastre ; Joao Costa Rodrigues ; Marc Fransen; Clara Sa Miranda ; Jorge E Azevedo ;
PUBLISHED: 2007, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1773, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 30
35
TITLE: Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous [Spectre mutationnel de la maladie de Gaucher en Tunisie: forte fréquence des hétérozygotes composites N370S/Rec NciI.]
AUTHORS: Cherif, W; Ben Turkia, H; Tebib, N; Amaral, O; Ben Rhouma, F; Abdelmoula, MS; Azzouz, H; Caillaud, C; Sa Miranda, MC ; Abdelhak, S; Ben Dridi, MF;
PUBLISHED: 2007, SOURCE: Archives de l'Institut Pasteur de Tunis, VOLUME: 84, ISSUE: 1-4
INDEXED IN: Scopus
IN MY: ORCID
36
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
IN MY: ORCID
37
TITLE: Ubiquitination of mammalian pex5p, the peroxisomal import receptor
AUTHORS: Carvalho, AF; Pinto, MP; Grou, CP ; Alencastre, IS ; Fransen, M; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2007, SOURCE: JOURNAL OF BIOLOGICAL CHEMISTRY, VOLUME: 282, ISSUE: 43
INDEXED IN: Scopus WOS CrossRef: 153
38
TITLE: Calcium phosphate microspheres for localised delivery of a therapeutic enzyme
AUTHORS: Barrias, CC ; Ribeiro, CC ; Martins, MCL ; Barbosa, MA ; Rodrigues, D; Miranda, MCS ;
PUBLISHED: 2006, SOURCE: 18th International Symposium on Ceramics in Medicine in BIOCERAMICS 18, PTS 1 AND 2, VOLUME: 309-311
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
39
TITLE: Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil  Full Text
AUTHORS: Rozenberg, R; Kok, F; Btum, MG; Sa Miranda, MCS ; Vasques, C; Henriques Souza, AMM; Giugliani, R; Mariz Vainzof; Pereira, LV;
PUBLISHED: 2006, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 21, ISSUE: 6
INDEXED IN: Scopus WOS
40
TITLE: Enzyme replacement therapy for mucopolysaccharidosis VI: A Phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study  Full Text
AUTHORS: Harmatz, P; Giugliani, R; Schwariz, I; Guffon, N; Teles, EL; Miranda, MCS ; Wraith, JE; Beck, M; Arash, L; Scarpa, M; Yu, ZF; Wittes, J; Berger, KI; Newman, MS; Lowe, AM; Kakkis, E; Swiedler, SJ;
PUBLISHED: 2006, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 148, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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