Roberto Giugliani

25.0k citations

643 papers · 15.2k · h-index 62

Impact in

Physiology top 0.02%
- Lysosomal Storage Disorders Research
Rheumatology top 0.1%
- Glycogen Storage Diseases and Myoclonus

Papers in

Physiology 444
- Lysosomal Storage Disorders Research 424
Epidemiology 132
- Trypanosoma species research and implications 109

Co-authors: Paul Harmatz (54 shared papers)Michael Beck (28 shared papers)Ida Vanessa Döederlein Schwartz (61 shared papers)Úrsula da Silveira Matte (83 shared papers)Joseph Muenzer (25 shared papers)Maira Graeff Burin (61 shared papers)Guilherme Baldo (65 shared papers)Carmen Regla Vargas (50 shared papers)
Journals: Molecular Genetics and Metabolism (128 papers)Journal of Inherited Metabolic Disease (29 papers)Orphanet Journal of Rare Diseases (25 papers)Clinica Chimica Acta (18 papers)Clinical Biochemistry (14 papers)
Partner nations: Brazil United States United Kingdom

In The Last Decade

Roberto Giugliani

605 papers receiving 14.8k citations

Peers

Countries citing papers authored by Roberto Giugliani

Since Specialization

Citations

This map shows the geographic impact of Roberto Giugliani's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Roberto Giugliani with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Roberto Giugliani more than expected).

Fields of papers citing papers by Roberto Giugliani

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Roberto Giugliani. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Roberto Giugliani. The network helps show where Roberto Giugliani may publish in the future.

Co-authors

The 25 scholars most cited alongside Roberto Giugliani, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Roberto Giugliani Line = papers co-authored together Roberto Giugliani links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 643 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) Genetics in Medicine ·Joseph Muenzer, J. E. Wraith, Michael Beck, Roberto Giugliani, Paul Harmatz, Christine M. Eng, Ashok Vellodi, Rick Martin, Uma Ramaswami, Müge Güçsavaş‐Çalıkoğlu, Suresh Vijayaraghavan, S. Wendt, Antonio Puga, B. Ulbrich, Marwan Shinawi, Maureen Cleary, Diane Piper, Ann Marie Conway, Alan Kimura	2006	457
2	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 The Journal of Pediatrics ·Paul Harmatz, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, Zi‐Fan Yu, Janet Wittes, Kenneth I. Berger, Mary S. Newman, Ann M. Lowe, Emil Kakkis, Stuart J. Swiedler	2006	285
3	Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey Journal of Medical Genetics ·Atul Mehta, Joe T.R. Clarke, Roberto Giugliani, Perry Elliott, Aleš Linhart, Michael Beck, Gere Sunder–Plassmann	2009	242
4	Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) PEDIATRICS ·Rick Martin, Michael Beck, Christine M. Eng, Roberto Giugliani, Paul Harmatz, Verónica Muñoz, Joseph Muenzer	2008	223
5	Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management Journal of Inherited Metabolic Disease ·Elizabeth Braunlin, Paul Harmatz, Maurizio Scarpa, Beatriz Helena Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani	2011	214
6	Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data The Lancet ·Atul Mehta, Michael Beck, Perry Elliott, Roberto Giugliani, Aleš Linhart, Gere Sunder–Plassmann, Raphael Schiffmann, Frédéric Barbey, Markus Ries, (unknown)	2009	207
7	Epidemiology of mucopolysaccharidoses Molecular Genetics and Metabolism ·Shaukat Khan, Hira Peracha, Diana Ballhausen, Alfred Wiesbauer, Marianne Rohrbach, Matthias Gautschi, Robert W. Mason, Roberto Giugliani, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii, Shunji Tomatsu	2017	199
8	Management Guidelines for Mucopolysaccharidosis VI PEDIATRICS ·Roberto Giugliani, Paul Harmatz, J. E. Wraith	2007	182
9	Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study Journal of Inherited Metabolic Disease ·Christian J. Hendriksz, Barbara K. Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon Jones, Hsiang‐Yu Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, (unknown), Peter Slasor, Debra L. Lounsbury, Wolfgang Dummer	2014	175
10	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 PEDIATRICS ·Paul Harmatz, David Ketteridge, Roberto Giugliani, Natalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, Zi‐Fan Yu, Stuart J. Swiedler, John J. Hopwood, (unknown)	2005	173
11	Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome Genetics in Medicine ·Joseph Muenzer, Michael Beck, Christine M. Eng, Roberto Giugliani, Paul Harmatz, Rick Martin, Uma Ramaswami, Ashok Vellodi, J. E. Wraith, Maureen Cleary, Müge Güçsavaş‐Çalıkoğlu, Ana Cristina Puga, Marwan Shinawi, Birgit Ulbrich, Suresh Vijayaraghavan, Susanne Wendt, Anne Conway, Alexandra Rossi, David Whiteman, Alan Kimura	2010	173
12	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 Molecular Genetics and Metabolism ·Paul Harmatz, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert D. Steiner, Chester B. Whitley, Paige Kaplan, Zi-Fan Yu, Stuart J. Swiedler, Celeste Decker	2008	159
13	The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families Cancer Letters ·Maria Isabel Achatz, Magali Olivier, Florence Le Calvez‐Kelm, Ghyslaine Martel‐Planche, Ademar Lopes, (unknown), Patrícia Ashton‐Prolla, Roberto Giugliani, Edenir Inêz Palmero, Fernando Regla Vargas, José Cláudio Casali da Rocha, André L. Vettore, Pierre Hainaut	2006	147
14	Genetics of homocysteine metabolism and associated disorders Brazilian Journal of Medical and Biological Research ·Sílvia Brustolin, Roberto Giugliani, Têmis Maria Félix	2010	143
15	Initial report from the Hunter Outcome Survey Genetics in Medicine ·J. E. Wraith, Michael Beck, Roberto Giugliani, Joe T.R. Clarke, Rick Martin, Joseph Muenzer	2008	142
16	A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B PEDIATRICS ·Margaret M. McGovern, Melissa Wasserstein, Roberto Giugliani, Bruno Bembi, Marie T. Vanier, Eugen Mengel, Scott E. Brodie, David S. Mendelson, Gwen Skloot, Robert J. Desnick, Noriko Kuriyama, Gerald F. Cox	2008	134
17	Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) Journal of Inherited Metabolic Disease ·Simon Jones, Zsuzsanna Almássy, Michael Beck, Karen Burt, Joe T.R. Clarke, Roberto Giugliani, Christian J. Hendriksz, T Kroepfl, Lawrence A. Lavery, Shau‐Ping Lin, Gunilla Malm, Uma Ramaswami, Radka Tincheva, J. E. Wraith, (unknown)	2009	132
18	Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain ·E. Malfatti, Marianna Bugiani, Federica Invernizzi, Carolina Fischinger Moura de Souza, Laura Farina, F. Carrara, Eleonora Lamantea, Carlo Antozzi, Paolo Confalonieri, Maria Teresa Vieira Sanseverino, Roberto Giugliani, Graziella Uziel, Massimo Zeviani	2007	123
19	The natural history of MPS I: global perspectives from the MPS I Registry Genetics in Medicine ·Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, J. Michael Taylor, Shari Fallet	2014	122
20	Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Giovana Brondani Biancini, Camila Simioni Vanzin, Daiane B. Rodrigues, Marion Deon, Graziela S. Ribas, Alethéa Gatto Barschak, Vanusa Manfredini, Cristina Brinckmann Oliveira Netto, Laura Bannach Jardim, Roberto Giugliani, Carmen Regla Vargas	2011	120

About Roberto Giugliani

Roberto Giugliani is a scholar working on Physiology, Epidemiology, Molecular Biology, Rheumatology and Genetics, having authored 643 papers that have together received 15.2k indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (424 papers), Trypanosoma species research and implications (109 papers), Glycogen Storage Diseases and Myoclonus (81 papers), Metabolism and Genetic Disorders (56 papers), Carbohydrate Chemistry and Synthesis (53 papers), Biomedical Research and Pathophysiology (35 papers), Cellular transport and secretion (32 papers) and Autoimmune and Inflammatory Disorders Research (23 papers). The work is most often cited by research in Physiology (10.4k citations), Rheumatology (2.5k citations), Clinical Biochemistry (936 citations), Epidemiology (3.6k citations) and Cell Biology (1.6k citations). Roberto Giugliani has collaborated with scholars based in Brazil, United States and United Kingdom. Frequent co-authors include Paul Harmatz, Michael Beck, Ida Vanessa Döederlein Schwartz, Úrsula da Silveira Matte, Joseph Muenzer, Maira Graeff Burin, Guilherme Baldo, Carmen Regla Vargas, Maurizio Scarpa and J. E. Wraith. Their work appears in journals such as Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disease, Orphanet Journal of Rare Diseases, Clinica Chimica Acta and Clinical Biochemistry.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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