Roberto Giugliani
AuthID: R-00F-BF9
1
TITLE: Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA Full Text
AUTHORS: Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla;
PUBLISHED: 2023, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 735
AUTHORS: Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla;
PUBLISHED: 2023, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 735
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Leukocyte Imbalances in Mucopolysaccharidoses Patients
AUTHORS: Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 6
AUTHORS: Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
AUTHORS: Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patricio; Allam, Sridhar R.; Chien, Yin Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A.;
PUBLISHED: 2023, SOURCE: FRONTIERS IN MEDICINE, VOLUME: 10
AUTHORS: Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patricio; Allam, Sridhar R.; Chien, Yin Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A.;
PUBLISHED: 2023, SOURCE: FRONTIERS IN MEDICINE, VOLUME: 10
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Evaluation of a CSF biomarker for gene therapy that discriminates neuronopathic and non-neuronopathic forms of MPS II
AUTHORS: Boulos, N.; Wu, Z.; Cho, Y.; Mulatya, C.; Fuller, M.; Ausseil, J.; Pavone, L. M.; Giugliani, R.; Fiscella, M.; Nevoret, M.;
PUBLISHED: 2021, SOURCE: HUMAN GENE THERAPY, VOLUME: 32, ISSUE: 19-20
AUTHORS: Boulos, N.; Wu, Z.; Cho, Y.; Mulatya, C.; Fuller, M.; Ausseil, J.; Pavone, L. M.; Giugliani, R.; Fiscella, M.; Nevoret, M.;
PUBLISHED: 2021, SOURCE: HUMAN GENE THERAPY, VOLUME: 32, ISSUE: 19-20
INDEXED IN: WOS
WOS5
TITLE: Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease Full Text
AUTHORS: Carla Martins ; Paula Frassinetti V de Medeiros; Sandra Leistner Segal; Larbi Dridi; Nursel Elcioglu; Jill Wood; Mandiyeh Behnam; Bilge Noyan; Lucia Lacerda; Michael T Geraghty; Damian Labuda; Roberto Giugliani; Alexey V Pshezhetsky;
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 8
AUTHORS: Carla Martins ; Paula Frassinetti V de Medeiros; Sandra Leistner Segal; Larbi Dridi; Nursel Elcioglu; Jill Wood; Mandiyeh Behnam; Bilge Noyan; Lucia Lacerda; Michael T Geraghty; Damian Labuda; Roberto Giugliani; Alexey V Pshezhetsky;
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 8
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study Full Text
AUTHORS: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; Simon A Jones; Adrian Quartel; Paul R Harmatz;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
AUTHORS: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; Simon A Jones; Adrian Quartel; Paul R Harmatz;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
INDEXED IN: WOS
WOS7
TITLE: The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastat Full Text
AUTHORS: Elfrida R Benjamin; Cecilia Della Valle; Xiaoyang Y Wu; Evan Katz; Kenneth J Valenzano; Daniel G Bichet; Dominique Germain; Roberto Giugliani; Derralynn Hughes; Raphael Schiffmann; William R Wilcox; Julie L Yu; John Kirk; Jay Barth; Jeff Castelli;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
AUTHORS: Elfrida R Benjamin; Cecilia Della Valle; Xiaoyang Y Wu; Evan Katz; Kenneth J Valenzano; Daniel G Bichet; Dominique Germain; Roberto Giugliani; Derralynn Hughes; Raphael Schiffmann; William R Wilcox; Julie L Yu; John Kirk; Jay Barth; Jeff Castelli;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
INDEXED IN: WOS 
CrossRef
WOS CrossRef8
TITLE: Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases Full Text
AUTHORS: Jackie Imrie; Karl Eugen Mengel; David Cassiman; Paulina Mabe; Moeen Al Sayed; Bruno Bembi; Roberto Giugliani; Seymour Packman; Manuel Schiff; Tsutomu Takahashi; Hadhami Ben Turkia; Gerald F Cox;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
AUTHORS: Jackie Imrie; Karl Eugen Mengel; David Cassiman; Paulina Mabe; Moeen Al Sayed; Bruno Bembi; Roberto Giugliani; Seymour Packman; Manuel Schiff; Tsutomu Takahashi; Hadhami Ben Turkia; Gerald F Cox;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
INDEXED IN: WOS CrossRef
WOS CrossRef9
TITLE: Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial Full Text
AUTHORS: Hendriksz, CJ; Giugliani, R; Harmatz, P; Mengel, E; Guffon, N; Valayannopoulos, V; Parini, R; Hughes, D; Pastores, GM; Lau, HA; Al Sayed, MD; Raiman, J; Ben Omran, T; Bober, MB; Burton, BK; Cleary, MA; Dali, CI; de Medeiros, PFV; Guelbert, NB; Hiwot, TG; ...More
PUBLISHED: 2015, SOURCE: Molecular Genetics and Metabolism, VOLUME: 114, ISSUE: 2
AUTHORS: Hendriksz, CJ; Giugliani, R; Harmatz, P; Mengel, E; Guffon, N; Valayannopoulos, V; Parini, R; Hughes, D; Pastores, GM; Lau, HA; Al Sayed, MD; Raiman, J; Ben Omran, T; Bober, MB; Burton, BK; Cleary, MA; Dali, CI; de Medeiros, PFV; Guelbert, NB; Hiwot, TG; ...More
PUBLISHED: 2015, SOURCE: Molecular Genetics and Metabolism, VOLUME: 114, ISSUE: 2
INDEXED IN: Scopus CrossRef
Scopus CrossRef10
TITLE: Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)-10-Year Follow-Up of Patients who Previously Participated in an MPS VI Survey Study Full Text
AUTHORS: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; James E Wraith; Simon A Jones; Cheri Piscia Nichols; Ping Lin; Adrian Quartel; Paul Harmatz;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164A, ISSUE: 8
AUTHORS: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; James E Wraith; Simon A Jones; Cheri Piscia Nichols; Ping Lin; Adrian Quartel; Paul Harmatz;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164A, ISSUE: 8
