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Roberto Giugliani

hospital de clínicas de porto alegre

80H-index
1.4KPaper Count
2.5WCitation Count
Published Papers 484
Publication Date
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The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect
errMolecular Genetics and Metabolism
IF3.5
err2026-04-01
err0
PREAI
errAna Paula Alegretti; Tatiane Hammerschmidt; Isaura Ribeiro; Dulce Quelhas; Márcia Polese-Bonatto; Maria Luiza Saraiva-Pereira; Esmeralda Martins; Roberto Giugliani; Marisa Encarnação; Sandra Alves; Carmen Regla Vargas
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errSave
Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I
errPharmaceutics
IF5.5
err2026-02-26
err0
errOAAI
errHallana Souza Santos; Edina Poletto; Luisa Natalia Pimentel Vera; Mirian Farinon; Francyne Kubaski; Paola Barcelos Carneiro; Willian da Silva Carniel; Roberto Giugliani; Ursula Matte; Helder Ferreira Teixeira; Roselena Silvestri Schuh; Guilherme Baldo
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Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network
errDiseases 2026, Vol. 14, Page 5
IF3
err2025-12-27
err0
errOAAI
errYorran Hardman Araújo Montenegro; Maria Fernanda Antero Alves; Simone Silva dos Santos-Lopes; Carolina Fischinger Moura de Souza; Fabiano de Oliveira Poswar; Ana Carolina Brusius-Facchin; Fernanda Bender-Pasetto; Kristiane Michelin-Tirelli; Fernanda Medeiros Sebastião; Franciele Barbosa Trapp; Erlane Marques Ribeiro; Paula Frassinetti Vasconcelos de Medeiros; Chong Ae Kim; Emilia Katiane Embiraçu; Mariluce Riegel-Giugliani; Guilherme Baldo; Roberto Giugliani
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Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey
errJIMD Reports
IF1.8
err2025-12-02
err0
errOAAI
errBurton, Barbara K.; Amartino, Hernan; Giugliani, Roberto; Kampmann, Christoph; Raiman, Julian; Scarpa, Maurizio; Tylki-szymanska, Anna; Audi, Jennifer; Botha, Jaco; Jain, Siddarth; Muenzer, Joseph
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Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey
errEuropean Journal of Clinical Investigation
IF3.6
err2025-11-06
err0
errOAAI
errDerralynn A. Hughes; Guillem Pintos-Morell; Christoph Kampmann; Christina Anagnostopoulou; Jaco Botha; Siddharth Jain; Kathleen Nicholls; Dau-Ming Niu; Ricardo Reisin; Michael L. West; Jörn Schenk; Uma Ramaswami; Roberto Giugliani
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Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the hunter outcome survey
errMolecular Genetics and Metabolism
IF3.5
err2025-11-02
err0
PREAI
errJoseph Muenzer; Jaco Botha; Hernan Amartino; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; Bianca Link; Shuan-Pei Lin; David Molter; Julian Raiman; Maurizio Scarpa; Anna Tylki-Szymańska; Siddharth Jain; David A.H. Whiteman; Barbara K. Burton
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errSave
Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials
errGenetics in Medicine
IF6.2
err2025-10-15
err0
errOAAI
errCynthia J. Tifft; Isabela Batsu; Roberto Giugliani; Harmonie Goyeau; Andreas Hahn; Simon A. Jones; Pascal Minini; Ichiro Nakashima; Mar O’Callaghan; Susan Perlman; Nathan Thibault; Madhurima Uppara Kowthalam; Riliang Zheng; Timothy M. Cox
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errSave
Current and Emerging Treatments for Acid Sphingomyelinase Deficiency
errDrugs
IF14.4
err2025-10-12
err0
PREAI
errTamires Silva Alves; Ana Luíza Fonseca Siqueira; Roberto Giugliani
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errSave
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador
errDiagnostics 2025, Vol. 15, Page 2337
IF3.3
err2025-09-30
err0
errOAAI
errMaría Lucía Castro Moreira; Yorran Hardman Araújo Montenegro; Angélica Salatino-Oliveira; Héctor Quintero Montano; Rodolfo F. Niz Bareiro; Simone Silva dos Santos-Lopes; Thiago Ramos da Silva; Lucas Kelvy Sales Azevedo; Karyme Beatrice Lourenço da Silva; Affonso Weslley de Almeida Moreira; Suzany Silva Araujo; Francyne Kubaski; Franciele Barbosa Trapp; Ana Carolina Brusius-Facchin; Fernanda Medeiros Sebastião; Kristiane Michelin-Tirelli; Guilherme Baldo; Roberto Giugliani; Durval Palhares
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errSave
ISNS General Guidelines for Neonatal Bloodspot Screening 2025
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 45
IF4
err2025-09-29
err0
errOAAI
errDianne Webster; Amy Gaviglio; Aysha Habib Khan; Mei Baker; David Cheillan; Layachi Chabraoui; Ghassan Abdoh; Juan Cabello; Roberto Giugliani; Dimitris Platis; Jan Østrup; R. Rodney Howell; Peter C. J. I. Schielen; James R. Bonham
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errSave
Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review
errMolecular Genetics and Metabolism
IF3.5
err2025-09-29
err0
errOAAI
errBarbara K. Burton; Daniel Fertek; Peter S. Chin; Carole Ho; Roberto Giugliani; Johanna M.P. van den Hout; Martin Magner; Fatih Ezgü; Moeenaldeen AlSayed; Joseph Muenzer; Torayuki Okuyama; Simon A. Jones
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errSave
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency
errJournal of Inherited Metabolic Disease
IF3.8
err2025-09-12
err0
PREAI
errMaurizio Scarpa; George A. Diaz; Roberto Giugliani; Simon A. Jones; Eugen Mengel; Nathalie Guffon; Peter Witters; Jaya Ganesh; Nicole M. Armstrong; Shruti Srivastava; Yong Kim
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errSave
ISNS General Guidelines for Neonatal Bloodspot Screening 2025
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 45
IF4
err2025-08-21
err0
PREAI
errDianne Webster; Amy Gaviglio; Aysha Habib Khan; Mei Baker; David Cheillan; Layachi Chabraoui; Ghassan Abdoh; Juan Cabello; Roberto Giugliani; Dimitris Platis; Jan Østrup; R. Rodney Howell; Peter C. J. I. Schielen; James R. Bonham
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errSave
Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice
errPHARMACEUTICS
IF5.5
err2025-05-17
err0
errOAAI
errMonteagudo, Vinicius; Flores, Larissa Cristina Barbosa; Lopes, Melaine; Fachel, Flavia Nathiely Silveira; Martins, Giselle; Siebert, Marina; Carniel, Willian da Silva; Garcez, Tuane Nerissa Alves; Teixeira, Helder Ferreira; Matte, Ursula; Giugliani, Roberto; Baldo, Guilherme; Poletto, Edina; Schuh, Roselena Silvestri
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Analysis of genomic ancestry and characterization of a new variant in MPS type VII
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-25
err0
errOAAI
errda Costa, Andreza Juliana Moreira; de Souza, Isabel Cristina Neves; Feio, Raimunda Helena; Viana, Laurent Ketlen Leao; Cisz, Mislene; Rafaelli, Celio Luiz; Trapp, Franciele Barbosa; Burin, Maira Graeff; Michelin-Tirelli, Kristiane; Brusius-Facchin, Ana Carolina; Netto, Alice Brinckmann Oliveira; Khayat, Andre Salim; dos Santos, Ney Pereira Carneiro; Giugliani, Roberto; Santana-da-Silva, Luiz Carlos
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Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-03-28
err0
errOAAI
errRevel-Vilk, Shoshana; Ramaswami, Uma; Pintos-Morell, Guillem; Hughes, Derralynn; Nicholls, Kathy; Reisin, Ricardo; Giugliani, Roberto; Goker-Alpan, Ozlem; Istaiti, Majdolen; Gill, Aidan; Scarpa, Maurizio; Botha, Jaco
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Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errFarjallah, Asma; Maranda, Bruno; Giugliani, Roberto; Auray-Blais, Christiane
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Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis
errMETABOLOMICS
IF3.3
err2025-03-01
err0
PREAI
errFarjallah, Asma; Maranda, Bruno; Giugliani, Roberto; Auray-Blais, Christiane
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errSave
Clinical trials to gene therapy development and production in Brazil: a review
errLANCET REGIONAL HEALTH-AMERICAS
IF7.6
err2025-03-01
err0
PREAI
errSaute, Jonas Alex Morales; Picanco-Castro, Virginia; Lopes, Ana Carolina de Freitas; Junior, Joao Batista da Silva; Nehm, Johanna Henriques; Maciel, Franciele dos Santos; Schwartz, Ida Vanessa Doederlein; Sallum, Juliana Maria Ferraz; Ozelo, Margareth Castro; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme
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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
errFRONTIERS IN PUBLIC HEALTH
IF3.4
err2025-02-26
err0
errOAAI
errBaldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica
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Research Directions

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Co-authors
Cooperation Journals
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James Moon
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Perry Elliott
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F
Franco Locatelli
H-index: 125 · Papers: 2.1K
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William M. Pardridge
H-index: 120 · Papers: 578
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