2026 Roberto Giugliani: Medicine Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Medicine	90	12229	11506	31	30	878	28845

Overview

Roberto Giugliani is affiliated with the Federal University of Rio Grande do Sul in Brazil. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, evidenced by their significant publication record. The main areas of study include Physiology, Molecular Biology, Epidemiology, Genetics, and Rheumatology.

The scientist's work extensively covers topics such as Lysosomal Storage Disorders Research, Trypanosoma species research and implications, Glycogen Storage Diseases and Myoclonus, Autoimmune and Inflammatory Disorders Research, Biomedical Research and Pathophysiology, Carbohydrate Chemistry and Synthesis, and Sphingolipid Metabolism and Signaling.

Roberto Giugliani contributes frequently to several scientific journals and has a considerable number of publications in venues including:

Molecular Genetics and Metabolism
Orphanet Journal of Rare Diseases
American Journal of Medical Genetics Part A
Molecular Genetics and Metabolism Reports
Journal of Inborn Errors of Metabolism and Screening

Notable recent papers by Roberto Giugliani include:

"A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results," 2022, Genetics in Medicine
"One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency," 2021, Genetics in Medicine
"Diagnosis of Mucopolysaccharidoses," 2020, Diagnostics
"Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial," 2020, Molecular Genetics and Metabolism
"Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)," 2023, Orphanet Journal of Rare Diseases

Collaborations form an important part of their scientific activity. Frequent co-authors associated with Roberto Giugliani are:

Maurizio Scarpa
Francyne Kubaski
Guilherme Baldo
Ana Carolina Brusius-Facchin
Paul Harmatz

Roberto Giugliani's extensive work contributes to understanding rare metabolic and genetic disorders through a multidisciplinary approach involving clinical trials, pathology, and molecular studies. The research output reflects ongoing efforts to investigate enzyme replacement therapies and diagnostic methods for lysosomal storage disorders and related diseases.

Best Publications

Epidemiology of mucopolysaccharidoses

Shaukat A. Khan;Hira Peracha;Diana Ballhausen;Alfred Wiesbauer

1045
Citations
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Joseph Muenzer;James E Wraith;Michael Beck;Roberto Giugliani

697
Citations
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P Germain;Derralynn A Hughes;Kathleen Nicholls;Daniel G Bichet

546
Citations
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

Rick Martin;Michael Beck;Christine Eng;Roberto Giugliani

410
Citations
Management guidelines for mucopolysaccharidosis VI.

Roberto Giugliani;Paul Harmatz;James E. Wraith

355
Citations
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

A Mehta;J T R Clarke;R Giugliani;P Elliott

346
Citations
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

A. Mehta;M. Beck;P. Elliott;R. Giugliani

329
Citations
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.

Paul Harmatz;Roberto Giugliani;Ida Schwartz;Nathalie Guffon

322
Citations
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Elizabeth A. Braunlin;Paul R. Harmatz;Maurizio Scarpa;Beatriz Furlanetto

300
Citations
Genetics of homocysteine metabolism and associated disorders.

S. Brustolin;R. Giugliani;T. M. Félix

298
Citations
Multidisciplinary Management of Hunter Syndrome

Joseph Muenzer;M Beck;C M Eng;M L Escolar

245
Citations
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Giugliani R;Federhen A;Rojas Mv;Vieira T

240
Citations
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

Maria Isabel Waddington Achatz;Magali Olivier;Florence Le Calvez;Ghyslaine Martel-Planche

239
Citations
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Joseph Muenzer;Michael Beck;Christine M Eng;Roberto Giugliani

238
Citations
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax21Neu +/– mutant mice

Sarah Porteous;Elena Torban;Nam-Pyo Cho;Heather Cunliffe

229
Citations
An international classification of inherited metabolic disorders (ICIMD).

Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

219
Citations
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Elfrida R. Benjamin;Maria Cecilia Della Valle;Xiaoyang Wu;Evan Katz

219
Citations
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

Christian J. Hendriksz;Christian J. Hendriksz;Barbara Burton;Thomas R. Fleming;Paul Harmatz

218
Citations
Initial report from the Hunter Outcome Survey.

J. Edmond Wraith;Michael Beck;Roberto Giugliani;Joe Clarke;Joe Clarke

210
Citations
Inborn Errors of Metabolism Sensitivity of Screening Tests in High Risk Patients

Roberto Giugliani;Carlos S. Dutra-Filho;Maria L. Barth;Janice C. Dutra

3
Citations

Frequent Co-Authors

Derralynn Hughes Royal Free London NHS Foundation Trust

Shunji Tomatsu Alfred I. duPont Hospital for Children

Moacir Wajner Federal University of Rio Grande do Sul

Daniel G. Bichet University of Montreal

Yasuyuki Suzuki Gifu University

Tadao Orii Gifu University

Seiji Yamaguchi Shimane University

Simon Jones Microsoft (United States)

Raphael Schiffmann Baylor University

Frits A. Wijburg University of Amsterdam

External Links

Personal website of Roberto Giugliani

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